Submissions for variant NM_013266.4(CTNNA3):c.483C>T (p.Leu161=)

gnomAD frequency: 0.00255  dbSNP: rs74142830

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000473397	SCV000559862	benign	Arrhythmogenic right ventricular dysplasia 13	2024-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001726184	SCV002006199	likely benign	not provided	2020-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341095	SCV002638060	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001700126	SCV004241212	benign	not specified	2023-12-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925361	SCV004745179	benign	CTNNA3-related condition	2019-02-20	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001700126	SCV001917498	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726184	SCV001967185	likely benign	not provided		no assertion criteria provided	clinical testing