ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2571C>T (p.Gly857=)

dbSNP: rs533262793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951478 SCV001097882 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970722 SCV004784633 likely benign EVC2-related disorder 2021-12-09 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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