ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1785G>A (p.Ser595=)

gnomAD frequency: 0.00001  dbSNP: rs782816522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002198202 SCV002357301 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002407369 SCV002717154 likely benign Cardiovascular phenotype 2021-05-15 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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