Submissions for variant NM_013266.4(CTNNA3):c.429T>C (p.Asp143=)

gnomAD frequency: 0.00178  dbSNP: rs111880127

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000459446	SCV000559860	benign	Arrhythmogenic right ventricular dysplasia 13	2024-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001702787	SCV002008085	likely benign	not provided	2020-11-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329125	SCV002631088	likely benign	Inborn genetic diseases	2022-03-09	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.
Clinical Genetics, Academic Medical Center	RCV001701017	SCV001917314	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702787	SCV001927222	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702787	SCV001973347	likely benign	not provided		no assertion criteria provided	clinical testing