Submissions for variant NM_013266.4(CTNNA3):c.1929C>T (p.His643=)

gnomAD frequency: 0.00055  dbSNP: rs147760277

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000456182	SCV000559854	benign	Arrhythmogenic right ventricular dysplasia 13	2023-12-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001528596	SCV002007078	likely benign	not provided	2020-07-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411549	SCV002721220	likely benign	Inborn genetic diseases	2022-03-04	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	RCV001528596	SCV001740575	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701016	SCV001920470	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528596	SCV001928432	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528596	SCV001952421	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528596	SCV001968543	likely benign	not provided		no assertion criteria provided	clinical testing