ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2340G>T (p.Ala780=)

gnomAD frequency: 0.00003  dbSNP: rs375539435
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000862602 SCV000719745 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088637 SCV001003127 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187318 SCV001354088 likely benign Cardiomyopathy 2018-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448869 SCV002733034 likely benign Cardiovascular phenotype 2019-12-10 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 RCV002491256 SCV002797869 likely benign Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-08-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002517 SCV004821783 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000608537 SCV001923022 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000862602 SCV001928321 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003962768 SCV004777900 likely benign DSG2-related disorder 2021-01-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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