Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001578929 | SCV001806288 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578930 | SCV001806289 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578931 | SCV001806290 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2O | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578932 | SCV001806291 | uncertain significance | Retinitis pigmentosa 76 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002570817 | SCV003258644 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2024-01-04 | criteria provided, single submitter | clinical testing |