ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.165C>T (p.Pro55=)

gnomAD frequency: 0.00005  dbSNP: rs780650457
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618723 SCV000736617 likely benign Cardiovascular phenotype 2016-07-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV001185525 SCV001351762 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001396559 SCV001598291 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-09-27 criteria provided, single submitter clinical testing
GeneDx RCV001672899 SCV001888060 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002661 SCV004819419 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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