ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.159C>T (p.Tyr53=)

gnomAD frequency: 0.00002  dbSNP: rs370760069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703711 SCV000522454 likely benign not provided 2019-04-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000466644 SCV000560961 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402145 SCV002709107 likely benign Cardiovascular phenotype 2020-11-16 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.

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