Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000297981 | SCV000447861 | uncertain significance | Familial aplasia of the vermis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000371235 | SCV000447862 | uncertain significance | Meckel-Gruber syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001457261 | SCV001661060 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-08-18 | criteria provided, single submitter | clinical testing |