Pangenia Genomics (Pangenia Inc.)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 33
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 1 | May 22, 2023 |
| CEP290 | 2 | May 22, 2023 |
| CRB1 | 2 | May 22, 2023 |
| GJB1 | 1 | Apr 26, 2023 |
| GPHN | 1 | May 3, 2023 |
| IDUA | 2 | May 22, 2023 |
| LOC122152296 | 1 | May 8, 2023 |
| LOC126860392 | 1 | May 3, 2023 |
| MPZ | 1 | Apr 27, 2023 |
| PANK2 | 1 | May 4, 2023 |
| PIGA | 7 | May 22, 2023 |
| PMP22 | 2 | May 2, 2023 |
| RDH12 | 1 | May 3, 2023 |
| RLBP1 | 1 | May 4, 2023 |
| RP1 | 2 | May 3, 2023 |
| SEMA4A | 1 | May 4, 2023 |
| SETX | 2 | Apr 26, 2023 |
| SH3TC2 | 2 | Jan 31, 2023 |
| SNRNP200 | 1 | May 22, 2023 |
| USH2A | 4 | May 8, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| CEP290-Related Disorders | 2 | May 22, 2023 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Apr 26, 2023 |
| Charcot-Marie-Tooth disease type 1B | 1 | Apr 27, 2023 |
| Charcot-Marie-Tooth disease type 4C | 2 | Jan 31, 2023 |
| Charcot-Marie-Tooth disease, type IA | 1 | May 2, 2023 |
| Dejerine-Sottas disease | 1 | Apr 26, 2023 |
| Leber congenital amaurosis 13 | 1 | May 3, 2023 |
| Mucopolysaccharidosis type 1 | 2 | May 22, 2023 |
| Paroxysmal nocturnal hemoglobinuria 1 | 7 | May 22, 2023 |
| Pigmentary pallidal degeneration | 1 | May 4, 2023 |
| Pigmentary retinal dystrophy | 1 | May 4, 2023 |
| Retinitis pigmentosa 1 | 2 | May 3, 2023 |
| Retinitis pigmentosa 12 | 2 | May 22, 2023 |
| Retinitis pigmentosa 19 | 1 | May 22, 2023 |
| Retinitis pigmentosa 33 | 1 | May 22, 2023 |
| Retinitis pigmentosa 35 | 1 | May 4, 2023 |
| Retinitis pigmentosa 39 | 4 | May 8, 2023 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2 | Apr 26, 2023 |