ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1264-5C>T (rs183614856)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250354 SCV000318384 benign Cardiovascular phenotype 2015-06-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770539 SCV000901986 benign Cardiomyopathy 2017-08-22 criteria provided, single submitter clinical testing
Color RCV000770539 SCV000904534 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000232000 SCV000744763 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000232000 SCV000290727 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-12-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039405 SCV000063089 benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.1264-5C>T in Intron 09 of DSC2: This variant is not expected to have clinical significance because it has been identified in 1.0% (38/3738) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS;).

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