ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2248C>A (p.Arg750=)

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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 RCV003583517 SCV004284553 likely benign Arrhythmogenic right ventricular dysplasia 13 2023-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004614462 SCV005103583 likely benign not specified 2024-06-15 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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