ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)

dbSNP: rs35401386
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597585 SCV000706147 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV001084491 SCV001091318 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000597585 SCV001991353 uncertain significance not provided 2019-06-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003952980 SCV004770264 likely benign EVC-related condition 2022-09-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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