GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1 AND Mental retardation and distinctive facial features with or without cardiac defects

Clinical significance:Likely pathogenic (Last evaluated: Dec 3, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001265125.1

Allele description [Variation Report for GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1]

GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12q24.21
Genomic location:
Chr12: 116528514 - 116605811 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
HGVS:
NC_000012.11:g.(?_116528514)_(116605811_?)del

Condition(s)

Name:
Mental retardation and distinctive facial features with or without cardiac defects (MRFACD)
Synonyms:
ASADOLLAHI-RAUCH SYNDROME
Identifiers:
MONDO: MONDO:0014773; MedGen: C4225208; Orphanet: 369891; OMIM: 616789

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001443158GenomeConnect - Simons Searchlightno assertion criteria providedLikely pathogenic
(Dec 3, 2018)
unknownprovider interpretation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443158.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-12-03 and interpreted as Likely Pathogenic. Variant was initially reported on 2018-06-18 by GTR ID of laboratory name 500110. The reporting laboratory might also submit to ClinVar.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 25, 2021

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