Center for Genetic Medicine Research
(Children's National Medical Center)
General information
Center for Genetic Medicine Research
Children's National Medical Center
111 Michigan Ave NW
Washington
District of Columbia
United States - 20010
Organization ID: 505157
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 74
Gene
| Gene | Submissions | Last Updated |
|---|
| ACTA1 | 3 | Jan 25, 2016 |
| ANO5 | 2 | Jan 25, 2016 |
| CAPN3 | 1 | Jan 25, 2016 |
| CAV3 | 2 | Jan 25, 2016 |
| COL6A1 | 2 | Jan 25, 2016 |
| COL6A2 | 4 | Jan 25, 2016 |
| COL6A3 | 4 | Jan 25, 2016 |
| DES | 2 | Jan 25, 2016 |
| DMD | 2 | Jan 25, 2016 |
| DNM2 | 2 | Jan 25, 2016 |
| DYNC1H1 | 1 | Jul 15, 2014 |
| DYSF | 3 | Jan 25, 2016 |
| FKRP | 2 | Jan 25, 2016 |
| ITGA7 | 2 | Jan 25, 2016 |
| LAMA2 | 4 | Jan 25, 2016 |
| LMNA | 2 | Jan 25, 2016 |
| LOC126806426 | 1 | Jan 25, 2016 |
| LOC126806427 | 1 | Jan 25, 2016 |
| LOC126806429 | 1 | Jan 25, 2016 |
| LOC126862115 | 1 | Jan 25, 2016 |
| LOC129935182 | 1 | Jan 25, 2016 |
| MYH7 | 2 | Jan 25, 2016 |
| MYOT | 1 | Jan 25, 2016 |
| NEB | 3 | Jan 25, 2016 |
| OXTR | 1 | Jan 25, 2016 |
| PKD2L2-DT | 1 | Jan 25, 2016 |
| POMT2 | 3 | Jan 25, 2016 |
| RIF1 | 1 | Jan 25, 2016 |
| RYR1 | 5 | Jan 25, 2016 |
| SELENON | 1 | Jan 25, 2016 |
| SSUH2 | 1 | Jan 25, 2016 |
| TPM2 | 1 | Jan 25, 2016 |
| TPM3 | 1 | Jan 25, 2016 |
| TTN | 19 | Jan 25, 2016 |
| TTN-AS1 | 13 | Jan 25, 2016 |
Condition
| Name | Submissions | Last Updated | | Actin accumulation myopathy | 1 | Jan 25, 2016 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Jul 15, 2014 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Jan 25, 2016 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Jan 25, 2016 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Jan 25, 2016 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Jan 25, 2016 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 | Jan 25, 2016 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 | Jan 25, 2016 |
| Bethlem myopathy 1A | 2 | Jan 25, 2016 |
| Central core myopathy | 4 | Jan 25, 2016 |
| Congenital muscular dystrophy | 3 | Jan 25, 2016 |
| Congenital muscular dystrophy with rigid spine | 1 | Jan 25, 2016 |
| Congenital myopathy | 2 | Jan 25, 2016 |
| Congenital myopathy 23 | 1 | Jan 25, 2016 |
| Congenital myopathy 4B, autosomal recessive | 1 | Jan 25, 2016 |
| Desmin-related myofibrillar myopathy | 2 | Jan 25, 2016 |
| Duchenne muscular dystrophy | 1 | Jan 25, 2016 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Jan 25, 2016 |
| Merosin deficient congenital muscular dystrophy | 1 | Jan 25, 2016 |
| Miyoshi muscular dystrophy 1 | 1 | Jan 25, 2016 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | Jan 25, 2016 |
| Nemaline myopathy 2 | 1 | Jan 25, 2016 |
| Rippling muscle disease 2 | 1 | Jan 25, 2016 |
| not specified | 41 | Jan 25, 2016 |
