ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.380-9C>G

gnomAD frequency: 0.00423  dbSNP: rs111987307
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125442 SCV000168894 benign not specified 2014-03-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000204708 SCV000259781 benign Hypertrophic cardiomyopathy 2025-01-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000125442 SCV000269185 benign not specified 2015-04-01 criteria provided, single submitter clinical testing c.380-9C>G in intron 1 of JPH2: This variant is not expected to have clinical si gnificance because it has been identified in 2.9% (78/2666) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs111987307).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001727584 SCV001473043 benign not provided 2022-04-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613922 SCV000734075 likely benign Hypertrophic cardiomyopathy 17 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125442 SCV001925635 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000125442 SCV001958341 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727584 SCV001969030 likely benign not provided no assertion criteria provided clinical testing

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