ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1099-167G>C

dbSNP: rs6810769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000826609 SCV000968203 benign not provided 2018-06-14 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.
Pars Genome Lab RCV001527546 SCV001738630 benign Ellis-van Creveld syndrome 2021-06-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000826609 SCV005297755 benign not provided criteria provided, single submitter not provided

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