ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.348A>C (p.Pro116=)

gnomAD frequency: 0.01511  dbSNP: rs61749224
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206494 SCV000261575 benign Arrhythmogenic right ventricular dysplasia 13 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001640312 SCV001859797 benign not provided 2018-09-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699068 SCV003928374 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699068 SCV001923257 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699068 SCV001954092 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699068 SCV001964819 benign not specified no assertion criteria provided clinical testing

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