ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.414G>A (p.Glu138=)

gnomAD frequency: 0.00001  dbSNP: rs370003514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001406493 SCV001608448 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001553745 SCV001774735 likely benign not specified 2021-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332926 SCV002629410 likely benign Cardiovascular phenotype 2022-08-01 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.

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