Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001696865 | SCV000573216 | likely benign | not provided | 2021-02-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765296 | SCV000896551 | uncertain significance | COACH syndrome 1; Joubert syndrome 7; Meckel syndrome, type 5 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000862031 | SCV001002461 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing |