ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) (rs896581899)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513812 SCV000610525 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing
Counsyl RCV000674041 SCV000799313 likely pathogenic Ellis-van Creveld syndrome 2018-04-09 criteria provided, single submitter clinical testing
Invitae RCV001215786 SCV001387548 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln941*) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 445803). Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.

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