Submissions for variant NM_020433.5(JPH2):c.1289-7C>T

gnomAD frequency: 0.02105  dbSNP: rs116986535

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125447	SCV000168899	benign	not specified	2014-03-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000125447	SCV000269179	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	1289-7C>T in intron 3 of JPH2: This variant is not expected to have clinical sig nificance because it has been identified in 3.8% (7/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs116986535).
Invitae	RCV000228199	SCV000290471	benign	Hypertrophic cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000125447	SCV000333234	benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000624926	SCV000743100	benign	Hypertrophic cardiomyopathy 17	2016-10-04	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000624926	SCV000744108	benign	Hypertrophic cardiomyopathy 17	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001795238	SCV001159046	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000125447	SCV001923897	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000125447	SCV001952685	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795238	SCV002035436	likely benign	not provided		no assertion criteria provided	clinical testing