ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1932C>T (p.Tyr644=)

gnomAD frequency: 0.00004  dbSNP: rs201704572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439476 SCV000533142 likely benign not specified 2016-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000459164 SCV000560960 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-07 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000439476 SCV001433489 likely benign not specified 2020-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411392 SCV002717509 likely benign Cardiovascular phenotype 2018-10-08 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000439476 SCV005040612 benign not specified 2024-03-28 criteria provided, single submitter clinical testing

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