ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=)

gnomAD frequency: 0.00315  dbSNP: rs115972723
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525867 SCV000654844 benign Arrhythmogenic right ventricular dysplasia 13 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001770476 SCV002004665 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431702 SCV002729278 likely benign Inborn genetic diseases 2022-02-17 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001701083 SCV003928376 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701083 SCV001925591 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701083 SCV001926265 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701083 SCV001968134 benign not specified no assertion criteria provided clinical testing

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