ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2958C>T (p.Thr986=)

gnomAD frequency: 0.00019  dbSNP: rs567792423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945841 SCV001091902 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815461 SCV002062538 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895744 SCV004710434 likely benign EVC2-related disorder 2023-03-16 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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