ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.580-8C>T

gnomAD frequency: 0.00170  dbSNP: rs141983252
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232573 SCV000289900 benign Arrhythmogenic right ventricular dysplasia 13 2025-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001723821 SCV002006434 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699246 SCV003928366 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001723821 SCV004126602 benign not provided 2022-10-01 criteria provided, single submitter clinical testing CTNNA3: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001723821 SCV005228087 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699246 SCV001925812 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699246 SCV001932225 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723821 SCV001955629 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723821 SCV001965177 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003929984 SCV004737976 likely benign CTNNA3-related disorder 2020-01-22 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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