ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)

gnomAD frequency: 0.00003  dbSNP: rs767400887
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054953 SCV001219314 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg911*) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant is present in population databases (rs767400887, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 850722). For these reasons, this variant has been classified as Pathogenic.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169863 SCV001251771 pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001169863 SCV002024518 likely pathogenic not provided 2022-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001054953 SCV002812013 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-29 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001729784 SCV005438482 pathogenic Ellis-van Creveld syndrome 2024-12-18 criteria provided, single submitter clinical testing
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001729784 SCV001977076 pathogenic Ellis-van Creveld syndrome 2021-10-05 no assertion criteria provided clinical testing
Natera, Inc. RCV001729784 SCV002083061 pathogenic Ellis-van Creveld syndrome 2021-08-04 no assertion criteria provided clinical testing

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