Submissions for variant NM_020433.5(JPH2):c.1169+10C>T

gnomAD frequency: 0.00009  dbSNP: rs372219237

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000612689	SCV000711586	likely benign	not specified	2017-07-10	criteria provided, single submitter	clinical testing	c.1169+10C>T in intron 2 of JPH2: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 12/118620 European chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs372219237) .
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000600385	SCV000743102	likely benign	Hypertrophic cardiomyopathy 17	2017-06-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000600385	SCV000744111	likely benign	Hypertrophic cardiomyopathy 17	2017-05-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000867225	SCV001008426	likely benign	Hypertrophic cardiomyopathy	2024-04-29	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600385	SCV000734070	likely benign	Hypertrophic cardiomyopathy 17		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000612689	SCV001922967	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724073	SCV001959371	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915752	SCV004728981	likely benign	JPH2-related disorder	2023-12-04	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).