Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438781 | SCV000520945 | pathogenic | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | The c.1886+5 G>T splice site variant in the EVC gene is an Amish founder variant and has been previously reported in association with Ellis-Van Creveld syndrome (Ruiz-Perez et al., 2000; D'Asdia et al., 2013; Chowdhury et al., 2017). The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant destroys the splice donor site in intron 13, and leads to abnormal gene splicing (Tompson et al., 2007). We consider this variant to be pathogenic. |
Counsyl | RCV000005666 | SCV000798161 | pathogenic | Chondroectodermal dysplasia | 2018-02-27 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005666 | SCV000025848 | pathogenic | Chondroectodermal dysplasia | 2000-03-01 | no assertion criteria provided | literature only | |
Dan Cohn Lab, |
RCV000516013 | SCV000612081 | pathogenic | Short rib-polydactyly syndrome, Majewski type | 2017-06-01 | no assertion criteria provided | research |