ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.399G>A (p.Thr133=)

gnomAD frequency: 0.00009  dbSNP: rs150376558
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231892 SCV000289897 benign Arrhythmogenic right ventricular dysplasia 13 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001723820 SCV002004920 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356300 SCV002622601 likely benign Inborn genetic diseases 2022-02-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Clinical Genetics, Academic Medical Center RCV001699084 SCV001922432 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699084 SCV001926649 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723820 SCV001957621 likely benign not provided no assertion criteria provided clinical testing

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