ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1293G>A (p.Pro431=)

gnomAD frequency: 0.00001  dbSNP: rs2072193158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003586303 SCV004268946 likely benign Hypertrophic cardiomyopathy 2024-01-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703074 SCV001931585 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703074 SCV001975669 likely benign not provided no assertion criteria provided clinical testing

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