ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.384+41C>T

gnomAD frequency: 0.08516  dbSNP: rs113870218
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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 RCV000252758 SCV000316380 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527529 SCV001738598 benign Ellis-van Creveld syndrome 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001668610 SCV001887286 benign not provided 2018-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668610 SCV005304816 benign not provided criteria provided, single submitter not provided

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