Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665358 | SCV000789468 | pathogenic | Ellis-van Creveld syndrome | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001382204 | SCV001580863 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2023-09-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg677*) 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). This variant is present in population databases (rs73198165, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with Ellis-van Creveld syndrome (PMID: 19810119, 22406498). ClinVar contains an entry for this variant (Variation ID: 550579). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001784231 | SCV002022226 | pathogenic | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing |