Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000883522 | SCV001026834 | likely benign | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002264045 | SCV002545181 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | KIAA0586: BP7 |