Research and Development (ARUP Laboratories), R&D
General information
Research and Development, R&D
ARUP Laboratories
Salt Lake City
Utah
United States - 84108
http://www.arup.utah.edu/database/
Organization ID: 506018
ARUP Laboratories
Salt Lake City
Utah
United States - 84108
http://www.arup.utah.edu/database/
Organization ID: 506018
Personnel
- Rong Mao, Contact
Phone: 801-583-2787 ext 3165
Email: rong.mao@aruplab.com - Genevieve Pont-Kingdon, Contact
Phone: 801-583 2787 ext 2546
Email: pontkig@aruplab.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1675
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alport syndrome 1, X-linked recessive | 809 | Apr 26, 2018 |
| Biotinidase deficiency | 214 | Mar 10, 2017 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 264 | Dec 18, 2012 |
| Familial medullary thyroid carcinoma | 1 | May 10, 2018 |
| Generalized juvenile polyposis/juvenile polyposis coli | 63 | Dec 26, 2012 |
| JP and JP/HHT | 6 | Dec 26, 2012 |
| JP, JP/HHT, and HHT | 1 | Dec 26, 2012 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 18 | Dec 26, 2012 |
| MEN2 phenotype: Unknown | 1 | Dec 21, 2012 |
| Multiple endocrine neoplasia, type 2 | 74 | Sep 20, 2019 |
| Multiple endocrine neoplasia, type 2a | 23 | Sep 20, 2019 |
| Multiple endocrine neoplasia, type 2b | 8 | May 10, 2018 |
| Renal carnitine transport defect | 111 | Dec 28, 2012 |
| not specified | 82 | Sep 20, 2019 |