Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000120718 | SCV000193104 | likely benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002517585 | SCV001092354 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001554913 | SCV001776246 | likely benign | not provided | 2020-01-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498559 | SCV002807650 | likely benign | Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 | 2021-09-29 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120718 | SCV000084880 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |