ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1491A>G (p.Val497=)

gnomAD frequency: 0.00006  dbSNP: rs141098613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108305 SCV002434929 likely benign Arrhythmogenic right ventricular dysplasia 13 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046464 SCV002701967 likely benign not specified 2021-02-08 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.

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