ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.175-10C>T

gnomAD frequency: 0.00013  dbSNP: rs113406354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893334 SCV001037259 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930841 SCV004738187 likely benign EVC-related condition 2019-09-12 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).
Natera, Inc. RCV001276221 SCV001462214 uncertain significance Ellis-van Creveld syndrome 2020-01-17 no assertion criteria provided clinical testing

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