Submissions for variant NM_020433.5(JPH2):c.1497C>A (p.Pro499=)

gnomAD frequency: 0.00002  dbSNP: rs1441785257

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625199	SCV000744106	likely benign	Hypertrophic cardiomyopathy 17	2015-09-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003162763	SCV003856132	likely benign	Cardiovascular phenotype	2022-12-04	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003586212	SCV004324219	likely benign	Hypertrophic cardiomyopathy	2023-08-30	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701126	SCV001919229	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724103	SCV001957288	likely benign	not provided		no assertion criteria provided	clinical testing