Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707979 | SCV000837089 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2022-07-11 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 14 of the EVC gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). A similar copy number variant has been observed in individuals with a clinical diagnosis of Ellis-van Creveld syndrome (Invitae). For these reasons, this variant has been classified as Pathogenic. |