ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2158A>C (p.Arg720=)

gnomAD frequency: 0.00169  dbSNP: rs143867269
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538441 SCV000654845 benign Arrhythmogenic right ventricular dysplasia 13 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001727759 SCV002005485 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420518 SCV002724630 likely benign Inborn genetic diseases 2022-02-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001700160 SCV001919052 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727759 SCV001972583 likely benign not provided no assertion criteria provided clinical testing

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