Laboratory of Molecular Genetics (National Institute of Health), LMG
General information
Laboratory of Molecular Genetics, LMG
National Institute of Health
Porter Neuroscience Research Center, National Institutes of Health, 35A Convent Drive, Bethesda, Maryland, 20892
Bethesda
Maryland
United States - 20892-3729
https://www.nidcd.nih.gov/about/staff/thomas-b-friedman-phd
Organization ID: 505809
National Institute of Health
Porter Neuroscience Research Center, National Institutes of Health, 35A Convent Drive, Bethesda, Maryland, 20892
Bethesda
Maryland
United States - 20892-3729
https://www.nidcd.nih.gov/about/staff/thomas-b-friedman-phd
Organization ID: 505809
Personnel
- Thomas Friedman
Phone: 3014967882
Email: [email protected] - Atteeq Rehman
Phone: 301-402-9059
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 4
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CLDN14 | 2 | Aug 30, 2016 |
| CLDN14-AS1 | 2 | Aug 30, 2016 |
| MYO15A | 1 | Jun 17, 2016 |
| SGO2 | 2 | Aug 30, 2016 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 3 | 1 | Jun 17, 2016 |
| Hearing impairment | 1 | Aug 30, 2016 |
| Perrault syndrome | 1 | Aug 30, 2016 |
| Premature ovarian failure | 1 | Aug 30, 2016 |