Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531372 | SCV000654039 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591277 | SCV001823525 | likely benign | not provided | 2021-06-16 | criteria provided, single submitter | clinical testing |