ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1146-5C>G

gnomAD frequency: 0.00004  dbSNP: rs746188195
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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 RCV000927124 SCV001072701 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933148 SCV004749191 likely benign EVC2-related disorder 2019-06-03 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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