Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712290 | SCV000532317 | likely benign | not provided | 2021-07-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000527716 | SCV000654050 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency | 2024-01-04 | criteria provided, single submitter | clinical testing |