ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.209G>T (p.Gly70Val)

gnomAD frequency: 0.00005  dbSNP: rs754380041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946048 SCV001092135 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942990 SCV004771760 likely benign EVC2-related disorder 2023-08-07 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).

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