ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2047-14C>G (rs116666639)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039073 SCV000062751 benign not specified 2012-04-13 criteria provided, single submitter clinical testing 2047-14C>G in Intron 12 of JUP: This variant is not expected to have clinical si gnificance because it has been identified in 2.6% (99/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs116666639).
GeneDx RCV000039073 SCV000169892 benign not specified 2014-03-13 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.
PreventionGenetics,PreventionGenetics RCV000039073 SCV000313866 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303696 SCV000402706 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360785 SCV000402707 likely benign Naxos disease 2016-06-14 criteria provided, single submitter clinical testing

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