ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1671G>A (p.Glu557=)

gnomAD frequency: 0.00001  dbSNP: rs754665306
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073425 SCV002386275 likely benign Hypertrophic cardiomyopathy 2024-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405282 SCV002706147 likely benign Cardiovascular phenotype 2021-05-07 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.
Clinical Genetics, Academic Medical Center RCV001730379 SCV001979024 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730378 SCV001980519 likely benign not provided no assertion criteria provided clinical testing

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