Submissions for variant NM_020433.5(JPH2):c.783G>C (p.Ala261=)

gnomAD frequency: 0.00034  dbSNP: rs201085317

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000620694	SCV000740011	likely benign	Cardiovascular phenotype	2016-08-31	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.
Invitae	RCV001435324	SCV001638143	likely benign	Hypertrophic cardiomyopathy	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001558188	SCV001780086	likely benign	not provided	2020-11-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945565	SCV004757629	likely benign	JPH2-related disorder	2019-02-20	criteria provided, single submitter	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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001558188	SCV001979661	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729663	SCV001980609	benign	not specified		no assertion criteria provided	clinical testing