Submissions for variant NM_013266.4(CTNNA3):c.387G>A (p.Leu129=)

gnomAD frequency: 0.00026  dbSNP: rs143943926

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861575	SCV001001938	benign	Arrhythmogenic right ventricular dysplasia 13	2025-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001724173	SCV002004414	likely benign	not provided	2019-02-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001701450	SCV002620554	likely benign	not specified	2022-08-10	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001724173	SCV005228090	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001701450	SCV001920658	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724173	SCV001957497	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724173	SCV001970653	likely benign	not provided		no assertion criteria provided	clinical testing