Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693001 | SCV000820854 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2018-06-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant has not been reported in the literature in individuals with EVC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg438Glyfs*62) in the EVC gene. It is expected to result in an absent or disrupted protein product. |