Academic Department of Medical Genetics (University of Cambridge)
General information
Academic Department of Medical Genetics
University of Cambridge
Level 6, Addenbrookes Treatment Centre
Addenbrookes Hospital
Cambridge
United Kingdom - CB2 0QQ
http://medgen.medschl.cam.ac.uk/
Organization ID: 500185
University of Cambridge
Level 6, Addenbrookes Treatment Centre
Addenbrookes Hospital
Cambridge
United Kingdom - CB2 0QQ
http://medgen.medschl.cam.ac.uk/
Organization ID: 500185
Personnel
- Marc Tischkowitz
Phone: +44 (0)1223 348735
Fax: +44 (0)1223 746777
Email: mdt33@cam.ac.uk - James Whitworth, Contact
Phone: 01233746717
Email: jww39@medschl.cam.ac.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 50
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATM | 10 | Apr 23, 2018 |
| BMPR1A | 1 | Apr 23, 2018 |
| BRCA1 | 1 | Apr 23, 2018 |
| BRCA2 | 6 | Apr 23, 2018 |
| C11orf65 | 7 | Apr 23, 2018 |
| CDKN1B | 1 | Apr 23, 2018 |
| CHEK2 | 5 | Apr 23, 2018 |
| EXT2 | 1 | Apr 23, 2018 |
| FH | 3 | Apr 23, 2018 |
| FLCN | 1 | Apr 23, 2018 |
| LOC129929542 | 1 | Apr 23, 2018 |
| LOC130055850 | 1 | Apr 23, 2018 |
| MAX | 2 | Apr 23, 2018 |
| MLH1 | 1 | Apr 23, 2018 |
| MSH2 | 1 | Apr 23, 2018 |
| NF1 | 4 | Apr 23, 2018 |
| NTHL1 | 1 | Apr 23, 2018 |
| PALB2 | 3 | Apr 23, 2018 |
| PMS2 | 1 | Apr 23, 2018 |
| PTEN | 3 | Apr 23, 2018 |
| SDHB | 2 | Apr 23, 2018 |
| SMAD4 | 1 | Apr 23, 2018 |
| TSC1 | 1 | Apr 23, 2018 |
| TSC2 | 1 | Apr 23, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hereditary cancer-predisposing syndrome | 50 | Apr 23, 2018 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Apr 23, 2018 |