Submissions for variant NM_020433.5(JPH2):c.624C>G (p.Ala208=)

dbSNP: rs398124358

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723681	SCV000113942	uncertain significance	not provided	2013-06-11	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215339	SCV000270289	likely benign	not specified	2015-05-20	criteria provided, single submitter	clinical testing	p.Ala208Ala in exon 2 of JPH2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2/2858 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs398124358).
GeneDx	RCV000723681	SCV000513304	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing
Invitae	RCV001087192	SCV000554194	likely benign	Hypertrophic cardiomyopathy	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617258	SCV000737366	likely benign	Cardiovascular phenotype	2015-11-25	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000601894	SCV000743104	benign	Hypertrophic cardiomyopathy 17	2017-10-13	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000601894	SCV000744113	likely benign	Hypertrophic cardiomyopathy 17	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000723681	SCV003799411	benign	not provided	2022-04-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000215339	SCV004038211	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915097	SCV004736148	benign	JPH2-related condition	2019-05-10	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
CeGaT Center for Human Genetics Tuebingen	RCV000723681	SCV004811164	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	JPH2: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000601894	SCV000734073	likely benign	Hypertrophic cardiomyopathy 17		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000215339	SCV001920617	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000723681	SCV001953739	likely benign	not provided		no assertion criteria provided	clinical testing