Submissions for variant NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=)

gnomAD frequency: 0.00420  dbSNP: rs115814032

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000226194	SCV000289895	benign	Arrhythmogenic right ventricular dysplasia 13	2024-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001651092	SCV001863663	benign	not provided	2018-10-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450700	SCV002740156	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	RCV001699166	SCV003928373	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699166	SCV001924171	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699166	SCV001959206	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699166	SCV001973588	benign	not specified		no assertion criteria provided	clinical testing