Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000853402 | SCV000996307 | pathogenic | Rothmund-Thomson syndrome type 1 | 2019-10-17 | no assertion criteria provided | literature only | |
CHU Sainte- |
RCV000853402 | SCV000999016 | likely pathogenic | Rothmund-Thomson syndrome type 1 | 2019-05-31 | no assertion criteria provided | research |