ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2059A>G (p.Ile687Val) (rs138366708)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039074 SCV000062752 benign not specified 2012-12-06 criteria provided, single submitter clinical testing Ile687Val in exon 13 of JUP: This variant is not expected to have clinical signi ficance because it has been identified in 4.2% (8/192) of Kenyan chromosomes fro m a broad population by the 1000 Genomes project (dbSNP rs138366708).
GeneDx RCV000039074 SCV000513316 likely benign not specified 2017-10-27 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 RCV000534009 SCV000645730 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2019-12-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852717 SCV000995431 benign Cardiomyopathy; Hypertrophic cardiomyopathy 2019-03-15 criteria provided, single submitter clinical testing

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