GRCh37/hg19 12q24.21(chr12:116526507-116536921)x1 AND not provided

delete

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 18, 2012
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:: RCV000750593.2

Allele description

GRCh37/hg19 12q24.21(chr12:116526507-116536921)x1

Gene:: MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 12q24.21
Genomic location:: Chr12: 116526507 - 116536921 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 12q24.21(chr12:116526507-116536921)x1
HGVS:: NC_000012.11:g.(?_116526507)_(116536921_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Mus musculus catechol-O-methyltransferase 1, mRNA (cDNA clone MGC:13804 IMAGE:42...
Mus musculus catechol-O-methyltransferase 1, mRNA (cDNA clone MGC:13804 IMAGE:4210097), complete cds
gi|14714534|gb|BC010402.1|

Nucleotide
Snord47 small nucleolar RNA, C/D box 47 [Mus musculus]
Snord47 small nucleolar RNA, C/D box 47 [Mus musculus]
Gene ID:100217446

Gene
CXCL3 C-X-C motif chemokine ligand 3 [Homo sapiens]
CXCL3 C-X-C motif chemokine ligand 3 [Homo sapiens]
Gene ID:2921

Gene
Gene Links for GEO Profiles (Select 44327760) (1)
Gene
Profile neighbors for GEO Profiles (Select 103255705) (18)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000878929	Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center	no assertion criteria provided	Benign (Sep 18, 2012)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000878929

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center

no assertion criteria provided

Benign
(Sep 18, 2012)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000878929.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000295241.2)	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	blood	not provided	(GTR000295241.2)	not provided	not provided	not provided	not provided

Last Updated: Mar 4, 2023

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