ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.801C>T (p.Ala267=) (rs138397457)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150852 SCV000515494 likely benign not specified 2016-09-19 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 RCV000531878 SCV000645747 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-05-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150852 SCV000198406 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala267Ala in Exon 05 of JUP: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 1/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs138397457).

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