ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.99C>T (p.Cys33=)

gnomAD frequency: 0.00002  dbSNP: rs139172952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469117 SCV000560967 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001683521 SCV001899821 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383889 SCV002694090 likely benign Cardiovascular phenotype 2020-12-29 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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