Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673672 | SCV000798900 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2018-03-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003465529 | SCV004197436 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2023-03-09 | criteria provided, single submitter | clinical testing |