Biochemistry Laboratory of CDMU (Chengde Medical University)
General information
Biochemistry Laboratory of CDMU
Chengde Medical University
Anyuan Road
Chengde
Hebei
China - 067000
Organization ID: 506974
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 45
Gene
| Gene | Submissions | Last Updated |
|---|
| AIFM1 | 1 | Apr 15, 2019 |
| BRWD3 | 1 | Apr 15, 2019 |
| DEPDC5 | 1 | Apr 15, 2019 |
| DHCR7 | 2 | Apr 15, 2019 |
| FOXP1 | 1 | Apr 15, 2019 |
| GPT2 | 1 | Apr 15, 2019 |
| IFIH1 | 1 | Apr 15, 2019 |
| IGHMBP2 | 2 | Apr 15, 2019 |
| LOC125446261 | 1 | Apr 15, 2019 |
| LOC126861615 | 1 | Apr 15, 2019 |
| LOC129930446 | 1 | Apr 15, 2019 |
| MECP2 | 2 | Apr 15, 2019 |
| MED13L | 1 | Apr 15, 2019 |
| MLC1 | 2 | Apr 15, 2019 |
| MMACHC | 1 | Apr 15, 2019 |
| NDUFS1 | 2 | Apr 15, 2019 |
| NEB | 2 | Apr 15, 2019 |
| OCRL | 1 | Apr 15, 2019 |
| PAH | 2 | Apr 15, 2019 |
| PCDH15 | 2 | Apr 15, 2019 |
| PLP1 | 1 | Apr 15, 2019 |
| POLR1A | 1 | Apr 15, 2019 |
| RAB33A | 1 | Apr 15, 2019 |
| RAB9B | 1 | Apr 15, 2019 |
| RELB | 1 | Jan 27, 2021 |
| RIF1 | 1 | Apr 15, 2019 |
| SMC3 | 1 | Apr 15, 2019 |
| SMN1 | 1 | Apr 15, 2019 |
| TCF4 | 1 | Apr 15, 2019 |
| TRIOBP | 2 | Apr 15, 2019 |
| ZEB2 | 1 | Apr 15, 2019 |
Condition
| Name | Submissions | Last Updated | | Acrofacial dysostosis Cincinnati type | 1 | Apr 15, 2019 |
| Aicardi-Goutieres syndrome 7 | 1 | Apr 15, 2019 |
| Autosomal recessive nonsyndromic hearing loss 28 | 2 | Apr 15, 2019 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Apr 15, 2019 |
| Charcot-Marie-Tooth disease axonal type 2S | 2 | Apr 15, 2019 |
| Cobalamin C disease | 1 | Apr 15, 2019 |
| Cornelia de Lange syndrome 3 | 1 | Apr 15, 2019 |
| Deletion of long arm of chromosome 18 | 1 | Apr 15, 2019 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Apr 15, 2019 |
| Glutamate pyruvate transaminase 2 deficiency | 1 | Apr 15, 2019 |
| Immunodeficiency 53 | 1 | Jan 27, 2021 |
| Intellectual disability, X-linked 93 | 1 | Apr 15, 2019 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Apr 15, 2019 |
| Lowe syndrome | 1 | Apr 15, 2019 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 2 | Apr 15, 2019 |
| Mitochondrial complex I deficiency, nuclear type 1 | 2 | Apr 15, 2019 |
| Mowat-Wilson syndrome | 1 | Apr 15, 2019 |
| Nemaline myopathy 2 | 2 | Apr 15, 2019 |
| Pelizaeus-Merzbacher disease | 1 | Apr 15, 2019 |
| Phenylketonuria | 2 | Apr 15, 2019 |
| Pitt-Hopkins syndrome | 1 | Apr 15, 2019 |
| Rett syndrome | 2 | Apr 15, 2019 |
| Severe X-linked mitochondrial encephalomyopathy | 1 | Apr 15, 2019 |
| Smith-Lemli-Opitz syndrome | 2 | Apr 15, 2019 |
| Syndromic X-linked intellectual disability Lubs type | 1 | Apr 15, 2019 |
| Usher syndrome type 1F | 2 | Apr 15, 2019 |
| Werdnig-Hoffmann disease | 1 | Apr 15, 2019 |
| not provided | 9 | Apr 15, 2019 |
