Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000724018 | SCV000226180 | pathogenic | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000174810 | SCV000793332 | likely pathogenic | Ellis-van Creveld syndrome | 2017-08-11 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000763526 | SCV000894338 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000763526 | SCV001422157 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln755*) 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 (rs751356206, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with autosomal recessive Ellis van-Creveld syndrome (PMID: 17024374). ClinVar contains an entry for this variant (Variation ID: 194442). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000174810 | SCV005062068 | pathogenic | Ellis-van Creveld syndrome | 2024-03-18 | criteria provided, single submitter | clinical testing | Variant summary: EVC2 c.2263C>T (p.Gln755X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 251264 control chromosomes. c.2263C>T has been reported in the literature in at least one compound heterozygous individual affected with Ellis-van Creveld syndrome (e.g. Tompson_2007). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 17024374). ClinVar contains an entry for this variant (Variation ID: 194442). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Department of Pathology and Laboratory Medicine, |
RCV000724018 | SCV001549267 | uncertain significance | not provided | no assertion criteria provided | clinical testing |