Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671301 | SCV000796262 | likely pathogenic | Ellis-van Creveld syndrome | 2017-12-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001046842 | SCV001210760 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2023-06-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555475). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser67Glyfs*12) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). |