Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503839 | SCV000597028 | likely benign | not specified | 2017-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002060146 | SCV002395964 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency | 2023-12-10 | criteria provided, single submitter | clinical testing |