ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1054+7A>T (rs371988639)

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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 RCV000214942 SCV000270292 likely benign not specified 2015-03-11 criteria provided, single submitter clinical testing c.1054+7A>T in intron 6 of JUP: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 5/10400 African chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs371988639).
Illumina Clinical Services Laboratory,Illumina RCV000341689 SCV000402738 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404177 SCV000402739 uncertain significance Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461949 SCV000560969 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000214942 SCV000728582 likely benign not specified 2018-01-15 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.

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