ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.525G>A (p.Ser175=)

gnomAD frequency: 0.00001  dbSNP: rs782794110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416229 SCV001618408 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-08-11 criteria provided, single submitter clinical testing
GeneDx RCV001692381 SCV001913824 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341902 SCV002641216 likely benign Cardiovascular phenotype 2018-08-03 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.
Fulgent Genetics, Fulgent Genetics RCV001416229 SCV002807436 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-13 criteria provided, single submitter clinical testing

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