ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2742T>C (p.Ser914=)

gnomAD frequency: 0.00001  dbSNP: rs529198523
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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 RCV000774284 SCV000907986 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067291 SCV002378015 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440607 SCV002749415 likely benign Cardiovascular phenotype 2020-05-16 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.
Fulgent Genetics, Fulgent Genetics RCV002487585 SCV002797429 likely benign Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-08-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001381 SCV004821833 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-07-20 criteria provided, single submitter clinical testing

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