Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000512972 | SCV000608804 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082983 | SCV001020834 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Department of Clinical Genetics, |
RCV000787615 | SCV000926599 | uncertain significance | Progressive cone dystrophy (without rod involvement) | 2018-04-01 | no assertion criteria provided | research |