Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001580697 | SCV001810411 | likely pathogenic | Ellis-van Creveld syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001882699 | SCV002203093 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2023-12-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln584Argfs*4) 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 not present in population databases (gnomAD no frequency). 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: 1210401). For these reasons, this variant has been classified as Pathogenic. |