Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV001002557 | SCV001160528 | uncertain significance | not specified | 2019-05-03 | criteria provided, single submitter | clinical testing | The EVC c.940-150T>C variant (rs576076928) is reported in the literature in at least one individual affected with Ellis-van Creveld syndrome who carried a second pathogenic variant on the opposite chromosome (Valencia 2009). This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. This is an intronic variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site. In vitro functional analyses demonstrate altered splicing through incorporation of part of intron 7 (Valencia 2009). However, given the limited amount of clinical and functional data, the significance of the c.940-150T>C variant is uncertain at this time. References: Valencia M et al. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum Mutat. 2009 Dec;30(12):1667-75. |
| Labcorp Genetics |
RCV001427903 | SCV001630593 | likely benign | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-12-16 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001002557 | SCV004029930 | uncertain significance | not specified | 2023-07-24 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001272633 | SCV001454798 | uncertain significance | Ellis-van Creveld syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |