Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001448062 | SCV001651143 | likely benign | Saldino-Mainzer syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501573 | SCV002809582 | likely benign | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2022-03-11 | criteria provided, single submitter | clinical testing |