ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr)

gnomAD frequency: 0.01916  dbSNP: rs61749223
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226862 SCV000289898 benign Arrhythmogenic right ventricular dysplasia 13 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001594881 SCV001828082 benign not provided 2019-02-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29767709)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699262 SCV003928368 likely benign not specified 2023-04-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594881 SCV005315818 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699262 SCV001918847 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699262 SCV001926559 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699262 SCV001959158 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699262 SCV001968139 benign not specified no assertion criteria provided clinical testing

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