ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1497C>A (p.Pro499=)

gnomAD frequency: 0.00002  dbSNP: rs1441785257
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625199 SCV000744106 likely benign Hypertrophic cardiomyopathy 17 2015-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162763 SCV003856132 likely benign Cardiovascular phenotype 2022-12-04 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.
Invitae RCV003586212 SCV004324219 likely benign Hypertrophic cardiomyopathy 2023-08-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701126 SCV001919229 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724103 SCV001957288 likely benign not provided no assertion criteria provided clinical testing

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