ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2601G>A (p.Thr867=)

gnomAD frequency: 0.00022  dbSNP: rs575703238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862447 SCV001002957 benign Arrhythmogenic right ventricular dysplasia 13 2025-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001729719 SCV002741337 likely benign not specified 2022-05-30 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.
Clinical Genetics, Academic Medical Center RCV001729719 SCV001978882 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729718 SCV001980600 likely benign not provided no assertion criteria provided clinical testing

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