Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cancer Diagnostics Division, |
RCV000991074 | SCV001142201 | pathogenic | Ellis-van Creveld syndrome | 2019-05-04 | criteria provided, single submitter | research | Carrier of this mutation and another mutation (as compound heterozygote) was reported with typical Ellis-van Creveld syndrome at prenatal stage and at delivery. Fatherr is a carrier of this mutation but expressed no symptom of Ellis-van Creveld syndrome (05/04/2019). |