ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) (rs191300661)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037301 SCV000060958 likely benign not specified 2018-04-10 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000727377 SCV000528544 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Invitae RCV001086554 SCV000561377 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727377 SCV000708000 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621087 SCV000737732 likely benign Cardiovascular phenotype 2016-09-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Color Health, Inc RCV000777813 SCV000913808 likely benign Cardiomyopathy 2018-07-02 criteria provided, single submitter clinical testing

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