ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2449+15del (rs398092136)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250153 SCV000316374 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378021 SCV000450330 benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000250153 SCV000566422 benign not specified 2017-12-06 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.
Natera, Inc. RCV000378021 SCV001456838 benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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