ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1128G>A (p.Leu376=)

gnomAD frequency: 0.00001  dbSNP: rs781926392
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780356 SCV000917548 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV001438634 SCV001641513 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2020-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000941680 SCV001757755 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325483 SCV002608754 likely benign Cardiovascular phenotype 2020-07-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV001438634 SCV002810660 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-20 criteria provided, single submitter clinical testing

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