Submissions for variant NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys)

gnomAD frequency: 0.01060  dbSNP: rs41274090

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228871	SCV000289890	benign	Arrhythmogenic right ventricular dysplasia 13	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001725139	SCV001960229	likely benign	not provided	2020-09-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21254927, 33232181, 32880476)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001699082	SCV004122314	likely benign	not specified	2023-10-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001725139	SCV004126596	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CTNNA3: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV001699082	SCV001922083	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699082	SCV001932128	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699082	SCV001952271	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699082	SCV001969890	benign	not specified		no assertion criteria provided	clinical testing