Submissions for variant NM_013266.4(CTNNA3):c.18A>T (p.Pro6=)

gnomAD frequency: 0.00018  dbSNP: rs138580439

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000861301	SCV001001574	likely benign	Arrhythmogenic right ventricular dysplasia 13	2024-01-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003169091	SCV003911598	likely benign	Inborn genetic diseases	2023-03-07	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528444	SCV001740205	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700314	SCV001917306	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528444	SCV001951998	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528444	SCV001966052	likely benign	not provided		no assertion criteria provided	clinical testing