ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054953 SCV001219314 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-23 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. This variant is present in population databases (rs767400887, ExAC 0.006%). This variant has not been reported in the literature in individuals with EVC-related conditions. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). 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

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