American College of Medical Genetics and Genomics, ACMG
General information
American College of Medical Genetics and Genomics, ACMG
7101 Wisconsin Ave., Suite 1101
Bethesda
Maryland
United States - 20814
http://www.acmg.net/
Organization ID: 500073
7101 Wisconsin Ave., Suite 1101
Bethesda
Maryland
United States - 20814
http://www.acmg.net/
Organization ID: 500073
Personnel
- Michael Watson
- Mike Watson, Contact
Phone: 301-718-9603
Email: [email protected]
Assertion criteria
Level: Practice guideline
Summary of submissions to ClinVar
Total submissions: 34
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CFTR | 23 | Jun 3, 2013 |
| CFTR-AS1 | 3 | Jun 3, 2013 |
| DM1-AS | 1 | May 17, 2020 |
| DMPK | 3 | May 17, 2020 |
| FMR1 | 4 | May 27, 2020 |
| FMR1-AS1 | 2 | May 27, 2020 |
| HTT | 4 | Jul 30, 2019 |
| LOC107075317 | 1 | May 17, 2020 |
| LOC109461477 | 1 | May 17, 2020 |
| LOC109461479 | 1 | Jul 30, 2019 |
| LOC111674475 | 5 | Jun 3, 2013 |
| LOC113633877 | 1 | Jun 3, 2013 |
| LOC129929027 | 1 | Jul 30, 2019 |
| LOC129929040 | 1 | May 17, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cystic fibrosis | 23 | Jun 3, 2013 |
| Fragile X syndrome | 4 | May 27, 2020 |
| Huntington disease | 4 | Jul 30, 2019 |
| Steinert myotonic dystrophy syndrome | 3 | May 17, 2020 |