Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490360 | SCV000267227 | uncertain significance | Microphthalmia with brain and digit anomalies | 2016-03-18 | criteria provided, single submitter | reference population | |
Invitae | RCV001395311 | SCV001597017 | likely benign | Microphthalmia with brain and digit anomalies; Orofacial cleft 11 | 2023-07-27 | criteria provided, single submitter | clinical testing |