Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001516679 | SCV001724991 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001598618 | SCV001827547 | benign | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23703862, 15175276, 21761116, 22282866, 16207846, 21679448, 18670143, 19536820, 16896927, 17333284, 9887336, 19614955, 18547814, 20232138, 14597484, 19096005) |