Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251429 | SCV000307891 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV003525890 | SCV004282552 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2022-12-03 | criteria provided, single submitter | clinical testing |