Submissions for variant NM_020433.5(JPH2):c.1974C>T (p.Ala658=)

gnomAD frequency: 0.00004  dbSNP: rs554320907

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001472736	SCV001676873	likely benign	Hypertrophic cardiomyopathy	2023-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415851	SCV002721639	likely benign	Cardiovascular phenotype	2018-05-08	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.
Clinical Genetics, Academic Medical Center	RCV001699231	SCV001921292	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000199626	SCV001953656	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000199626	SCV001974347	likely benign	not provided		no assertion criteria provided	clinical testing