ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1774-34C>A

gnomAD frequency: 0.71145  dbSNP: rs8067890
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241699 SCV000313863 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830194 SCV000971929 benign not provided 2018-06-15 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.
Genome-Nilou Lab RCV001730642 SCV001980850 benign Arrhythmogenic right ventricular dysplasia 12 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730641 SCV001980851 benign Naxos disease 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830194 SCV005248121 benign not provided criteria provided, single submitter not provided

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