Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665096 | SCV000789160 | pathogenic | Ellis-van Creveld syndrome | 2017-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001213406 | SCV001385035 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys342*) 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 (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with EVC2-related conditions (PMID: 23220543). ClinVar contains an entry for this variant (Variation ID: 550367). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001328649 | SCV001519813 | pathogenic | Curry-Hall syndrome | 2019-06-12 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing in homozygous state [PMID 19251731] |
Fulgent Genetics, |
RCV001213406 | SCV002776076 | likely pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2022-03-08 | criteria provided, single submitter | clinical testing |