Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000007283 | SCV000027479 | pathogenic | Carcinoma of colon | 2000-03-01 | no assertion criteria provided | literature only | |
Service de Génétique Moléculaire, |
RCV001255736 | SCV001432310 | likely pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | no assertion criteria provided | clinical testing |