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GRCh37/hg19 18q11.2(chr18:19047402-19737070)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000847262.2

Allele description [Variation Report for GRCh37/hg19 18q11.2(chr18:19047402-19737070)x3]

GRCh37/hg19 18q11.2(chr18:19047402-19737070)x3

Genes:
  • GREB1L:GREB1 like retinoic acid receptor coactivator [Gene - OMIM - HGNC]
  • MIB1:MIB E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • ABHD3:abhydrolase domain containing 3, phospholipase [Gene - OMIM - HGNC]
  • ESCO1:establishment of sister chromatid cohesion N-acetyltransferase 1 [Gene - OMIM - HGNC]
  • MIR1-2:microRNA 1-2 [Gene - OMIM - HGNC]
  • MIR133A1:microRNA 133a-1 [Gene - OMIM - HGNC]
  • SNRPD1:small nuclear ribonucleoprotein D1 polypeptide [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
18q11.2
Genomic location:
Chr18: 19047402 - 19737070 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 18q11.2(chr18:19047402-19737070)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000989384Bionano Laboratories
    no assertion criteria provided
    		Uncertain significance
    (Nov 30, 2017)     		unknownclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Bionano Laboratories, SCV000989384.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

    Last Updated: Dec 11, 2022