GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1 AND See cases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 20, 2016
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:: RCV000240557.1

Allele description [Variation Report for GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1]

GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1

Gene:: MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 12q24.21
Genomic location:: Chr12: 116497982 - 116534949 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
HGVS:: NC_000012.11:g.(?_116497982)_(116534949_?)del
This HGVS expression did not pass validation

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000298286	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jan 20, 2016)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298286

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jan 20, 2016)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000298286.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine