ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1137C>A (p.Ile379=)

gnomAD frequency: 0.00046  dbSNP: rs143158930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703849 SCV000525269 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Invitae RCV000526560 SCV000623867 benign Hypertrophic cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618253 SCV000740147 likely benign Cardiovascular phenotype 2017-04-26 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330670 SCV004038213 benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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