ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.93C>G (p.Ala31=)

gnomAD frequency: 0.00194  dbSNP: rs866226288
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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) RCV000594456 SCV000706475 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001426483 SCV001629137 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834897 SCV002083008 likely benign Ellis-van Creveld syndrome 2020-05-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003945414 SCV004762855 likely benign EVC-related disorder 2021-11-10 no assertion criteria provided 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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