ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1581C>G (p.Ser527=)

gnomAD frequency: 0.00011  dbSNP: rs752533344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719072 SCV000728579 likely benign not provided 2019-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064349 SCV002360509 likely benign Hypertrophic cardiomyopathy 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404692 SCV002705930 likely benign Cardiovascular phenotype 2019-09-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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