ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.297T>C (p.Phe99=)

gnomAD frequency: 0.00001  dbSNP: rs1045965107
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176006 SCV001339819 likely benign Cardiomyopathy 2019-10-14 criteria provided, single submitter clinical testing
GeneDx RCV001712869 SCV001945377 benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067874 SCV002398975 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436733 SCV002746284 likely benign Cardiovascular phenotype 2020-02-12 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.
All of Us Research Program, National Institutes of Health RCV004000312 SCV004819432 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing

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