Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002515848 | SCV003447627 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2022-10-17 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120724 | SCV000084887 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |