Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666228 | SCV000790485 | pathogenic | Ellis-van Creveld syndrome | 2017-04-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000804230 | SCV000944127 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2023-12-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala565Valfs*23) 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 present in population databases (rs753014919, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with Ellis-van Creveld syndrome (PMID: 17024374, 23220543). ClinVar contains an entry for this variant (Variation ID: 551227). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV003140060 | SCV003821460 | pathogenic | not provided | 2022-06-06 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000666228 | SCV001456830 | pathogenic | Ellis-van Creveld syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |