Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003638620 | SCV004467804 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-08-09 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120727 | SCV000084890 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |