ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1296C>T (p.Asn432=) (rs544224850)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245589 SCV000318792 likely benign Cardiovascular phenotype 2013-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000607889 SCV000728583 likely benign not specified 2017-06-13 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 RCV000552736 SCV000645723 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-07-27 criteria provided, single submitter clinical testing

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