Submissions for variant NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)

gnomAD frequency: 0.01003  dbSNP: rs140740776

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082005	SCV000113940	benign	not specified	2013-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001719698	SCV000168900	benign	not provided	2018-11-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25333069, 27532831, 23299917, 17476457, 27884173, 29398688)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205170	SCV000261418	benign	Hypertrophic cardiomyopathy	2025-01-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000082005	SCV000269180	benign	not specified	2015-05-28	criteria provided, single submitter	clinical testing	p.Gly505Ser in exon 4 of JPH2: This variant is not expected to have clinical sig nificance because it has been identified in 7.3% (30/412) of South Asian chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; rs140740776).
Ambry Genetics	RCV000244391	SCV000319081	benign	Cardiovascular phenotype	2015-07-14	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Phosphorus, Inc.	RCV000023411	SCV000679934	benign	Hypertrophic cardiomyopathy 17	2017-08-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000023411	SCV000743099	benign	Hypertrophic cardiomyopathy 17	2016-09-08	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000023411	SCV000744105	benign	Hypertrophic cardiomyopathy 17	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719698	SCV002049615	benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001719698	SCV003916298	benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	JPH2: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000082005	SCV004038214	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001719698	SCV005311808	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000023411	SCV000044702	uncertain significance	Hypertrophic cardiomyopathy 17	2007-01-01	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000023411	SCV000734067	benign	Hypertrophic cardiomyopathy 17		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082005	SCV001917149	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082005	SCV001953913	benign	not specified		no assertion criteria provided	clinical testing