ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2235G>A (p.Thr745=)

dbSNP: rs759572082
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870351 SCV001011844 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-11-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187618 SCV001354468 likely benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001553575 SCV001774475 likely benign not specified 2021-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169167 SCV003858288 likely benign Cardiovascular phenotype 2023-02-16 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.
CeGaT Center for Human Genetics Tuebingen RCV003456446 SCV004185105 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DSG2: BP4, BP7
All of Us Research Program, National Institutes of Health RCV004003061 SCV004821769 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-08-06 criteria provided, single submitter clinical testing

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