Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671523 | SCV000796507 | pathogenic | Ellis-van Creveld syndrome | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Genomics England Pilot Project, |
RCV000671523 | SCV001760138 | likely pathogenic | Ellis-van Creveld syndrome | no assertion criteria provided | clinical testing |