ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.128A>G (p.Asn43Ser)

gnomAD frequency: 0.00072  dbSNP: rs138992849
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001699058 SCV000235923 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing
Invitae RCV000525610 SCV000623870 likely benign Hypertrophic cardiomyopathy 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620653 SCV000735699 likely benign Cardiovascular phenotype 2019-01-07 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 DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625203 SCV000744117 uncertain significance Hypertrophic cardiomyopathy 17 2017-05-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927714 SCV004740143 likely benign JPH2-related disorder 2022-01-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV001699058 SCV001924314 uncertain significance not provided no assertion criteria provided clinical testing

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