ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1465-47A>C

gnomAD frequency: 0.20086  dbSNP: rs4642178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249453 SCV000316365 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527583 SCV001738682 benign Ellis-van Creveld syndrome 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001594922 SCV001829134 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594922 SCV005297765 benign not provided criteria provided, single submitter not provided

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