ClinVar Miner

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

gnomAD frequency: 0.00009  dbSNP: rs372219237
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Total submissions: 8
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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
Invitae RCV000867225 SCV001008426 likely benign Hypertrophic cardiomyopathy 2023-03-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915752 SCV004728981 likely benign JPH2-related disorder 2023-12-04 criteria provided, single submitter 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).
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

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