Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rare Disease Group, |
RCV000754963 | SCV000788389 | uncertain significance | Cranioectodermal dysplasia | 2018-05-01 | criteria provided, single submitter | research | |
Gene |
RCV000055972 | SCV000087021 | not provided | Cranioectodermal dysplasia 1 | no assertion provided | literature only | ||
OMIM | RCV000055972 | SCV001441269 | pathogenic | Cranioectodermal dysplasia 1 | 2013-07-05 | no assertion criteria provided | literature only |