ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1500G>A (p.Met500Ile)

gnomAD frequency: 0.00163  dbSNP: rs149898884
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003159658 SCV000726840 uncertain significance not provided 2023-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29068549)
Counsyl RCV000673759 SCV000798997 uncertain significance Ellis-van Creveld syndrome 2018-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878646 SCV001021582 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905290 SCV004722965 likely benign EVC-related disorder 2022-10-28 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).
Dan Cohn Lab, University Of California Los Angeles RCV000673759 SCV000612077 pathogenic Ellis-van Creveld syndrome 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000673759 SCV001479592 likely pathogenic Ellis-van Creveld syndrome no assertion criteria provided research
Natera, Inc. RCV000673759 SCV002083031 likely benign Ellis-van Creveld syndrome 2020-02-17 no assertion criteria provided clinical testing

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