ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.522G>A (p.Ala174=)

gnomAD frequency: 0.00004  dbSNP: rs782745301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861697 SCV001002082 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345943 SCV002646754 likely benign Cardiovascular phenotype 2018-07-08 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 RCV000861697 SCV002810211 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-17 criteria provided, single submitter clinical testing

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