Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240773 | SCV001413744 | likely benign | Saldino-Mainzer syndrome | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491798 | SCV002799750 | uncertain significance | Saldino-Mainzer syndrome; Retinitis pigmentosa 80 | 2022-04-13 | criteria provided, single submitter | clinical testing |