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 |