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

gnomAD frequency: 0.00315  dbSNP: rs115972723

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000525867	SCV000654844	benign	Arrhythmogenic right ventricular dysplasia 13	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001770476	SCV002004665	likely benign	not provided	2020-10-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001701083	SCV002729278	likely benign	not specified	2022-02-17	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001701083	SCV003928376	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001770476	SCV005228080	likely benign	not provided		criteria provided, single submitter	not provided
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