ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.379+12T>G

gnomAD frequency: 0.00023  dbSNP: rs763058686
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606334 SCV000730887 likely benign not specified 2017-04-10 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.
Invitae RCV002066791 SCV002323414 likely benign Hypertrophic cardiomyopathy 2023-09-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000606334 SCV001917113 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726266 SCV001963096 likely benign not provided no assertion criteria provided clinical testing

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