Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070497 | SCV001235744 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2021-08-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln686Profs*3) in the EVC2 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 been observed in an individual affected with Ellis-van Creveld syndrome (PMID: 12571802). Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). |
Kasturba Medical College, |
RCV000003549 | SCV002507169 | pathogenic | Ellis-van Creveld syndrome | 2022-05-09 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003549 | SCV000023707 | pathogenic | Ellis-van Creveld syndrome | 2003-03-01 | no assertion criteria provided | literature only |