ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2133C>T (p.Ile711=)

gnomAD frequency: 0.00002  dbSNP: rs754084649
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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 RCV000864046 SCV001004792 benign Arrhythmogenic right ventricular dysplasia 13 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027612 SCV002729037 likely benign not specified 2020-05-18 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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