Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001563920 | SCV001786979 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563921 | SCV001786980 | uncertain significance | Muscular dystrophy-dystroglycanopathy type B5 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563922 | SCV001786981 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2021-07-14 | criteria provided, single submitter | clinical testing |