ClinVar Miner

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

gnomAD frequency: 0.00007  dbSNP: rs191300661
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 dysplasia 10 2024-01-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) 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 This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000777813 SCV000913808 likely benign Cardiomyopathy 2018-07-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037301 SCV004038084 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727377 SCV004562149 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing

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