Submissions for variant NM_001005242.3(PKP2):c.406G>A (p.Val136Met)

dbSNP: rs567795321

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703583	SCV000518059	likely benign	not provided	2018-09-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000640027	SCV000761614	likely benign	Arrhythmogenic right ventricular dysplasia 9	2023-12-11	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769396	SCV000900788	likely benign	Cardiomyopathy	2016-10-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769396	SCV000911341	benign	Cardiomyopathy	2018-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002323597	SCV002631378	likely benign	Cardiovascular phenotype	2019-03-14	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.
PreventionGenetics, part of Exact Sciences	RCV003942342	SCV004766139	likely benign	PKP2-related disorder	2021-02-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).