U.S. flag

An official website of the United States government

GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) AND Silver-Russell syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000767567.1

Allele description [Variation Report for GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)]

GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)

Genes:
  • AKIP1:A-kinase interacting protein 1 [Gene - OMIM - HGNC]
  • ARFIP2:ADP ribosylation factor interacting protein 2 [Gene - OMIM - HGNC]
  • ART1:ADP-ribosyltransferase 1 [Gene - OMIM - HGNC]
  • ART5:ADP-ribosyltransferase 5 [Gene - OMIM - HGNC]
  • BRSK2:BR serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • BET1L:Bet1 golgi vesicular membrane trafficking protein like [Gene - OMIM - HGNC]
  • CD151:CD151 molecule (Raph blood group) [Gene - OMIM - HGNC]
  • CD81:CD81 molecule [Gene - OMIM - HGNC]
  • CTR9:CTR9 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
  • DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
  • DENND2B:DENN domain containing 2B [Gene - OMIM - HGNC]
  • DENND5A:DENN domain containing 5A [Gene - OMIM - HGNC]
  • EPS8L2:EPS8 like 2 [Gene - OMIM - HGNC]
  • FHIP1B:FHF complex subunit HOOK interacting protein 1B [Gene - OMIM - HGNC]
  • H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
  • HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
  • IGF2-AS:IGF2 antisense RNA [Gene - OMIM - HGNC]
  • INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
  • KCNQ1DN:KCNQ1 downstream neighbor [Gene - OMIM - HGNC]
  • KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
  • LMO1:LIM domain only 1 [Gene - OMIM - HGNC]
  • LMNTD2-AS1:LMNTD2 antisense RNA 1 [Gene - HGNC]
  • MRGPRE:MAS related GPR family member E [Gene - OMIM - HGNC]
  • MRGPRG:MAS related GPR family member G [Gene - OMIM - HGNC]
  • MICALCL:MICAL C-terminal like [Gene - OMIM - HGNC]
  • MIR210HG:MIR210 host gene [Gene - HGNC]
  • MOB2:MOB kinase activator 2 [Gene - OMIM - HGNC]
  • MTRNR2L8:MT-RNR2 like 8 [Gene - HGNC]
  • NLRP10:NLR family pyrin domain containing 10 [Gene - OMIM - HGNC]
  • NLRP14:NLR family pyrin domain containing 14 [Gene - OMIM - HGNC]
  • NLRP6:NLR family pyrin domain containing 6 [Gene - OMIM - HGNC]
  • PHRF1:PHD and ring finger domains 1 [Gene - OMIM - HGNC]
  • PPFIBP2:PPFIA binding protein 2 [Gene - OMIM - HGNC]
  • RBMXL2:RBMX like 2 [Gene - OMIM - HGNC]
  • RIC3:RIC3 acetylcholine receptor chaperone [Gene - OMIM - HGNC]
  • RIC8A:RIC8 guanine nucleotide exchange factor A [Gene - OMIM - HGNC]
  • POLR2L:RNA polymerase II, I and III subunit L [Gene - OMIM - HGNC]
  • RASSF7:Ras association domain family member 7 [Gene - OMIM - HGNC]
  • SBF2:SET binding factor 2 [Gene - OMIM - HGNC]
  • SLC22A18AS:SLC22A18 antisense RNA [Gene - OMIM - HGNC]
  • TAF10:TATA-box binding protein associated factor 10 [Gene - OMIM - HGNC]
  • TMEM9B:TMEM9 domain family member B [Gene - OMIM - HGNC]
  • TUB:TUB bipartite transcription factor [Gene - OMIM - HGNC]
  • WEE1:WEE1 G2 checkpoint kinase [Gene - OMIM - HGNC]
  • ASCL2:achaete-scute family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • ASCL3:achaete-scute family bHLH transcription factor 3 [Gene - OMIM - HGNC]
  • AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]
  • AMPD3:adenosine monophosphate deaminase 3 [Gene - OMIM - HGNC]
  • ADM:adrenomedullin [Gene - OMIM - HGNC]
  • APBB1:amyloid beta precursor protein binding family B member 1 [Gene - OMIM - HGNC]
  • ANO9:anoctamin 9 [Gene - OMIM - HGNC]
  • B4GALNT4:beta-1,4-N-acetyl-galactosaminyltransferase 4 [Gene - OMIM - HGNC]
  • CDHR5:cadherin related family member 5 [Gene - OMIM - HGNC]
  • CRACR2B:calcium release activated channel regulator 2B [Gene - OMIM - HGNC]
  • CSNK2A3:casein kinase 2 alpha 3 [Gene - HGNC]
  • CTSD:cathepsin D [Gene - OMIM - HGNC]
  • CAVIN3:caveolae associated protein 3 [Gene - OMIM - HGNC]
  • CEND1:cell cycle exit and neuronal differentiation 1 [Gene - OMIM - HGNC]
  • CHID1:chitinase domain containing 1 [Gene - OMIM - HGNC]
  • CCKBR:cholecystokinin B receptor [Gene - OMIM - HGNC]
  • CHRNA10:cholinergic receptor nicotinic alpha 10 subunit [Gene - OMIM - HGNC]
  • C11orf16:chromosome 11 open reading frame 16 [Gene - HGNC]
  • C11orf21:chromosome 11 open reading frame 21 [Gene - OMIM - HGNC]
  • C11orf42:chromosome 11 open reading frame 42 [Gene - HGNC]
  • C11orf40:chromosome 11 putative open reading frame 40 [Gene - HGNC]
  • CIMAP1A:ciliary microtubule associated protein 1A [Gene - OMIM - HGNC]
  • CNGA4:cyclic nucleotide gated channel subunit alpha 4 [Gene - OMIM - HGNC]
  • CDKN1C:cyclin dependent kinase inhibitor 1C [Gene - OMIM - HGNC]
  • CARS1:cysteinyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • CYB5R2:cytochrome b5 reductase 2 [Gene - OMIM - HGNC]
  • DCHS1:dachsous cadherin-related 1 [Gene - OMIM - HGNC]
  • DKK3:dickkopf WNT signaling pathway inhibitor 3 [Gene - OMIM - HGNC]
  • DRD4:dopamine receptor D4 [Gene - OMIM - HGNC]
  • DUSP8:dual specificity phosphatase 8 [Gene - OMIM - HGNC]
  • DNHD1:dynein heavy chain domain 1 [Gene - OMIM - HGNC]
  • EIF3F:eukaryotic translation initiation factor 3 subunit F [Gene - OMIM - HGNC]
  • EIF4G2:eukaryotic translation initiation factor 4 gamma 2 [Gene - OMIM - HGNC]
  • GATD1:glutamine amidotransferase class 1 domain containing 1 [Gene - HGNC]
  • HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
  • HBD:hemoglobin subunit delta [Gene - OMIM - HGNC]
  • HBE1:hemoglobin subunit epsilon 1 [Gene - OMIM - HGNC]
  • HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
  • HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]
  • HPX:hemopexin [Gene - OMIM - HGNC]
  • IPO7:importin 7 [Gene - OMIM - HGNC]
  • IRAG1:inositol 1,4,5-triphosphate receptor associated 1 [Gene - OMIM - HGNC]
  • IGF2:insulin like growth factor 2 [Gene - OMIM - HGNC]
  • INS:insulin [Gene - OMIM - HGNC]
  • ILK:integrin linked kinase [Gene - OMIM - HGNC]
  • IFITM10:interferon induced transmembrane protein 10 [Gene - OMIM - HGNC]
  • IFITM1:interferon induced transmembrane protein 1 [Gene - OMIM - HGNC]
  • IFITM2:interferon induced transmembrane protein 2 [Gene - OMIM - HGNC]
  • IFITM3:interferon induced transmembrane protein 3 [Gene - OMIM - HGNC]
  • IFITM5:interferon induced transmembrane protein 5 [Gene - OMIM - HGNC]
  • IRF7:interferon regulatory factor 7 [Gene - OMIM - HGNC]
  • KRTAP5-1:keratin associated protein 5-1 [Gene - OMIM - HGNC]
  • KRTAP5-2:keratin associated protein 5-2 [Gene - HGNC]
  • KRTAP5-3:keratin associated protein 5-3 [Gene - HGNC]
  • KRTAP5-4:keratin associated protein 5-4 [Gene - HGNC]
  • KRTAP5-5:keratin associated protein 5-5 [Gene - HGNC]
  • KRTAP5-6:keratin associated protein 5-6 [Gene - HGNC]
  • LMNTD2:lamin tail domain containing 2 [Gene - HGNC]
  • LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
  • LYVE1:lymphatic vessel endothelial hyaluronan receptor 1 [Gene - OMIM - HGNC]
  • LSP1:lymphocyte specific protein 1 [Gene - OMIM - HGNC]
  • MMP26:matrix metallopeptidase 26 [Gene - OMIM - HGNC]
  • MIR210:microRNA 210 [Gene - OMIM - HGNC]
  • MICAL2:microtubule associated monooxygenase, calponin and LIM domain containing 2 [Gene - OMIM - HGNC]
  • MRPL17:mitochondrial ribosomal protein L17 [Gene - OMIM - HGNC]
  • MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]
  • MUC2:mucin 2, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5B:mucin 5B, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC6:mucin 6, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • NRIP3:nuclear receptor interacting protein 3 [Gene - OMIM - HGNC]
  • NUP98:nucleoporin 98 and 96 precursor [Gene - OMIM - HGNC]
  • NAP1L4:nucleosome assembly protein 1 like 4 [Gene - OMIM - HGNC]
  • OLFML1:olfactomedin like 1 [Gene - HGNC]
  • OR10A2:olfactory receptor family 10 subfamily A member 2 [Gene - HGNC]
  • OR10A3:olfactory receptor family 10 subfamily A member 3 [Gene - HGNC]
  • OR10A4:olfactory receptor family 10 subfamily A member 4 [Gene - HGNC]
  • OR10A5:olfactory receptor family 10 subfamily A member 5 [Gene - OMIM - HGNC]
  • OR10A6:olfactory receptor family 10 subfamily A member 6 (gene/pseudogene) [Gene - HGNC]
  • OR2AG1:olfactory receptor family 2 subfamily AG member 1 [Gene - HGNC]
  • OR2AG2:olfactory receptor family 2 subfamily AG member 2 [Gene - HGNC]
  • OR2D2:olfactory receptor family 2 subfamily D member 2 [Gene - OMIM - HGNC]
  • OR2D3:olfactory receptor family 2 subfamily D member 3 [Gene - HGNC]
  • OR5P2:olfactory receptor family 5 subfamily P member 2 [Gene - HGNC]
  • OR5P3:olfactory receptor family 5 subfamily P member 3 [Gene - HGNC]
  • OR51A2:olfactory receptor family 51 subfamily A member 2 [Gene - HGNC]
  • OR51A4:olfactory receptor family 51 subfamily A member 4 [Gene - HGNC]
  • OR51A7:olfactory receptor family 51 subfamily A member 7 [Gene - HGNC]
  • OR51B2:olfactory receptor family 51 subfamily B member 2 [Gene - HGNC]
  • OR51B4:olfactory receptor family 51 subfamily B member 4 [Gene - HGNC]
  • OR51B5:olfactory receptor family 51 subfamily B member 5 [Gene - HGNC]
  • OR51B6:olfactory receptor family 51 subfamily B member 6 [Gene - HGNC]
  • OR51D1:olfactory receptor family 51 subfamily D member 1 [Gene - HGNC]
  • OR51E1:olfactory receptor family 51 subfamily E member 1 [Gene - OMIM - HGNC]
  • OR51E2:olfactory receptor family 51 subfamily E member 2 [Gene - OMIM - HGNC]
  • OR51F1:olfactory receptor family 51 subfamily F member 1 [Gene - HGNC]
  • OR51F2:olfactory receptor family 51 subfamily F member 2 [Gene - HGNC]
  • OR51G1:olfactory receptor family 51 subfamily G member 1 [Gene - HGNC]
  • OR51G2:olfactory receptor family 51 subfamily G member 2 [Gene - HGNC]
  • OR51I1:olfactory receptor family 51 subfamily I member 1 [Gene - HGNC]
  • OR51I2:olfactory receptor family 51 subfamily I member 2 [Gene - HGNC]
  • OR51L1:olfactory receptor family 51 subfamily L member 1 [Gene - HGNC]
  • OR51M1:olfactory receptor family 51 subfamily M member 1 [Gene - HGNC]
  • OR51Q1:olfactory receptor family 51 subfamily Q member 1 [Gene - HGNC]
  • OR51S1:olfactory receptor family 51 subfamily S member 1 [Gene - HGNC]
  • OR51T1:olfactory receptor family 51 subfamily T member 1 [Gene - HGNC]
  • OR51V1:olfactory receptor family 51 subfamily V member 1 [Gene - HGNC]
  • OR52A1:olfactory receptor family 52 subfamily A member 1 [Gene - HGNC]
  • OR52A5:olfactory receptor family 52 subfamily A member 5 [Gene - HGNC]
  • OR52B2:olfactory receptor family 52 subfamily B member 2 [Gene - HGNC]
  • OR52B4:olfactory receptor family 52 subfamily B member 4 [Gene - HGNC]
  • OR52B6:olfactory receptor family 52 subfamily B member 6 [Gene - HGNC]
  • OR52D1:olfactory receptor family 52 subfamily D member 1 [Gene - HGNC]
  • OR52E2:olfactory receptor family 52 subfamily E member 2 [Gene - HGNC]
  • OR52E4:olfactory receptor family 52 subfamily E member 4 [Gene - HGNC]
  • OR52E6:olfactory receptor family 52 subfamily E member 6 [Gene - HGNC]
  • OR52E8:olfactory receptor family 52 subfamily E member 8 [Gene - HGNC]
  • OR52H1:olfactory receptor family 52 subfamily H member 1 [Gene - HGNC]
  • OR52I1:olfactory receptor family 52 subfamily I member 1 [Gene - HGNC]
  • OR52I2:olfactory receptor family 52 subfamily I member 2 [Gene - HGNC]
  • OR52J3:olfactory receptor family 52 subfamily J member 3 [Gene - HGNC]
  • OR52K1:olfactory receptor family 52 subfamily K member 1 [Gene - HGNC]
  • OR52K2:olfactory receptor family 52 subfamily K member 2 [Gene - HGNC]
  • OR52L1:olfactory receptor family 52 subfamily L member 1 [Gene - HGNC]
  • OR52M1:olfactory receptor family 52 subfamily M member 1 [Gene - HGNC]
  • OR52N1:olfactory receptor family 52 subfamily N member 1 [Gene - HGNC]
  • OR52N2:olfactory receptor family 52 subfamily N member 2 [Gene - HGNC]
  • OR52N4:olfactory receptor family 52 subfamily N member 4 [Gene - HGNC]
  • OR52N5:olfactory receptor family 52 subfamily N member 5 [Gene - HGNC]
  • OR52R1:olfactory receptor family 52 subfamily R member 1 [Gene - HGNC]
  • OR52W1:olfactory receptor family 52 subfamily W member 1 [Gene - HGNC]
  • OR56A1:olfactory receptor family 56 subfamily A member 1 [Gene - HGNC]
  • OR56A3:olfactory receptor family 56 subfamily A member 3 [Gene - HGNC]
  • OR56A4:olfactory receptor family 56 subfamily A member 4 [Gene - HGNC]
  • OR56A5:olfactory receptor family 56 subfamily A member 5 [Gene - HGNC]
  • OR56B1:olfactory receptor family 56 subfamily B member 1 [Gene - HGNC]
  • OR56B4:olfactory receptor family 56 subfamily B member 4 [Gene - HGNC]
  • OR6A2:olfactory receptor family 6 subfamily A member 2 [Gene - OMIM - HGNC]
  • OVCH2:ovochymase 2 [Gene - OMIM - HGNC]
  • OSBPL5:oxysterol binding protein like 5 [Gene - OMIM - HGNC]
  • PIDD1:p53-induced death domain protein 1 [Gene - OMIM - HGNC]
  • PARVA:parvin alpha [Gene - OMIM - HGNC]
  • PNPLA2:patatin like phospholipase domain containing 2 [Gene - OMIM - HGNC]
  • PTDSS2:phosphatidylserine synthase 2 [Gene - OMIM - HGNC]
  • PKP3:plakophilin 3 [Gene - OMIM - HGNC]
  • PHLDA2:pleckstrin homology like domain family A member 2 [Gene - OMIM - HGNC]
  • GALNT18:polypeptide N-acetylgalactosaminyltransferase 18 [Gene - OMIM - HGNC]
  • PGAP2:post-GPI attachment to proteins 2 [Gene - OMIM - HGNC]
  • KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
  • PSMD13:proteasome 26S subunit, non-ATPase 13 [Gene - OMIM - HGNC]
  • PGGHG:protein-glucosylgalactosylhydroxylysine glucosidase [Gene - OMIM - HGNC]
  • RHOG:ras homolog family member G [Gene - OMIM - HGNC]
  • RNH1:ribonuclease/angiogenin inhibitor 1 [Gene - OMIM - HGNC]
  • RRM1:ribonucleotide reductase catalytic subunit M1 [Gene - OMIM - HGNC]
  • RRP8:ribosomal RNA processing 8 [Gene - OMIM - HGNC]
  • RPL27A:ribosomal protein L27a [Gene - OMIM - HGNC]
  • RPLP2:ribosomal protein lateral stalk subunit P2 [Gene - OMIM - HGNC]
  • RNF141:ring finger protein 141 [Gene - OMIM - HGNC]
  • SCT:secretin [Gene - OMIM - HGNC]
  • SCGB1C1:secretoglobin family 1C member 1 [Gene - OMIM - HGNC]
  • STK33:serine/threonine kinase 33 [Gene - OMIM - HGNC]
  • SCUBE2:signal peptide, CUB domain and EGF like domain containing 2 [Gene - OMIM - HGNC]
  • SIGIRR:single Ig and TIR domain containing [Gene - OMIM - HGNC]
  • SIRT3:sirtuin 3 [Gene - OMIM - HGNC]
  • SNORA3B:small nucleolar RNA, H/ACA box 3B [Gene - OMIM - HGNC]
  • SLC22A18:solute carrier family 22 member 18 [Gene - OMIM - HGNC]
  • SLC25A22:solute carrier family 25 member 22 [Gene - OMIM - HGNC]
  • SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]
  • STIM1:stromal interaction molecule 1 [Gene - OMIM - HGNC]
  • SWAP70:switching B cell complex subunit SWAP70 [Gene - OMIM - HGNC]
  • SYT8:synaptotagmin 8 [Gene - OMIM - HGNC]
  • SYT9:synaptotagmin 9 [Gene - OMIM - HGNC]
  • TSPAN32:tetraspanin 32 [Gene - OMIM - HGNC]
  • TSPAN4:tetraspanin 4 [Gene - OMIM - HGNC]
  • TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
  • TALDO1:transaldolase 1 [Gene - OMIM - HGNC]
  • TRPM5:transient receptor potential cation channel subfamily M member 5 [Gene - OMIM - HGNC]
  • TIMM10B:translocase of inner mitochondrial membrane 10B [Gene - OMIM - HGNC]
  • TMEM41B:transmembrane protein 41B [Gene - OMIM - HGNC]
  • TMEM80:transmembrane protein 80 [Gene - OMIM - HGNC]
  • TRIM21:tripartite motif containing 21 [Gene - OMIM - HGNC]
  • TRIM22:tripartite motif containing 22 [Gene - OMIM - HGNC]
  • TRIM34:tripartite motif containing 34 [Gene - OMIM - HGNC]
  • TRIM3:tripartite motif containing 3 [Gene - OMIM - HGNC]
  • TRIM5:tripartite motif containing 5 [Gene - OMIM - HGNC]
  • TRIM66:tripartite motif containing 66 [Gene - OMIM - HGNC]
  • TRIM68:tripartite motif containing 68 [Gene - OMIM - HGNC]
  • TRIM6:tripartite motif containing 6 [Gene - OMIM - HGNC]
  • TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
  • TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]
  • TNNT3:troponin T3, fast skeletal type [Gene - OMIM - HGNC]
  • TSSC4:tumor suppressing subtransferable candidate 4 [Gene - OMIM - HGNC]
  • TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
  • UBQLN3:ubiquilin 3 [Gene - OMIM - HGNC]
  • UBQLNL:ubiquilin like [Gene - HGNC]
  • USP47:ubiquitin specific peptidase 47 [Gene - OMIM - HGNC]
  • ZBED5:zinc finger BED-type containing 5 [Gene - OMIM - HGNC]
  • ZNF143:zinc finger protein 143 [Gene - OMIM - HGNC]
  • ZNF195:zinc finger protein 195 [Gene - OMIM - HGNC]
  • ZNF214:zinc finger protein 214 [Gene - OMIM - HGNC]
  • ZNF215:zinc finger protein 215 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11p15.5-15.3
Genomic location:
Chr11: 193146 - 12643136 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)
Observations:
1

Condition(s)

Name:
Silver-Russell syndrome 1 (SRS1)
Identifiers:
MONDO: MONDO:0020796; MedGen: C5393125; Orphanet: 813; OMIM: 180860

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000898189Baylor Genetics
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Nov 1, 2018) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedclinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Baylor Genetics, SCV000898189.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 14, 2023