National Institute on Deafness and Communication Disorders
(National Institutes of Health)
General information
National Institute on Deafness and Communication Disorders
National Institutes of Health
35 A, Porter Neuroscience Building
Bethesda
Maryland
United States - 20892
Organization ID: 505676
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 96
Gene
| Gene | Submissions | Last Updated |
|---|
| ADGRV1 | 5 | Apr 19, 2020 |
| CDH23 | 8 | Jul 28, 2021 |
| CDH23-AS1 | 1 | Jul 28, 2021 |
| CHD7 | 2 | Jul 28, 2021 |
| CIB2 | 1 | Jul 28, 2021 |
| CLPP | 1 | Sep 19, 2023 |
| CLRN1 | 2 | Apr 19, 2020 |
| COL11A1 | 2 | Jul 28, 2021 |
| ESPN | 1 | Sep 5, 2018 |
| GRXCR1 | 1 | Sep 5, 2018 |
| ILDR1 | 4 | Jul 28, 2021 |
| KCNE1 | 3 | Jun 21, 2018 |
| LHFPL5 | 1 | Sep 5, 2018 |
| LOC105371566 | 10 | Jul 28, 2021 |
| LOC105378311 | 1 | Apr 19, 2020 |
| LOC126861365 | 1 | Sep 5, 2018 |
| LOC127814297 | 1 | Sep 5, 2018 |
| LRP2 | 6 | Oct 18, 2022 |
| MAP3K1 | 1 | Jun 9, 2023 |
| MSRB3 | 1 | Sep 5, 2018 |
| MYO15A | 17 | Jul 28, 2021 |
| MYO7A | 7 | Jul 28, 2021 |
| OPA1 | 1 | Jul 28, 2021 |
| OTOF | 5 | Jul 28, 2021 |
| PCDH15 | 4 | Jul 28, 2021 |
| PJVK | 1 | Sep 5, 2018 |
| POU3F4 | 1 | Sep 5, 2018 |
| POU4F3 | 1 | Sep 5, 2018 |
| S1PR2 | 1 | Jan 8, 2016 |
| SPTLC1 | 1 | Jul 28, 2021 |
| TBC1D24 | 1 | Aug 21, 2020 |
| TBCEL-TECTA | 3 | Sep 5, 2018 |
| TECTA | 3 | Sep 5, 2018 |
| TMC1 | 2 | Sep 5, 2018 |
| TMPRSS3 | 2 | Jul 28, 2021 |
| TRIOBP | 1 | Sep 5, 2018 |
| USH2A | 8 | Jul 28, 2021 |
| USH2A-AS1 | 2 | Apr 19, 2020 |
| USH2A-AS2 | 1 | Jul 28, 2021 |
| WFS1 | 1 | Jul 28, 2021 |
Condition
| Name | Submissions | Last Updated | | Autosomal recessive nonsyndromic hearing loss 2 | 5 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 21 | 3 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 23 | 2 | Mar 16, 2021 |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 3 | 11 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 42 | 2 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 68 | 1 | Jan 8, 2016 |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Sep 5, 2018 |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 | Aug 21, 2020 |
| Autosomal recessive nonsyndromic hearing loss 9 | 3 | Sep 5, 2018 |
| Autosomal recessive sensorineural hearing loss | 3 | Sep 5, 2018 |
| Childhood onset hearing loss | 32 | Jul 28, 2021 |
| Hearing impairment | 4 | Oct 18, 2022 |
| Hearing loss | 1 | Jun 9, 2023 |
| Hearing loss and Retinal dystrophy | 2 | Feb 22, 2022 |
| Jervell and Lange-Nielsen syndrome 2 | 3 | Jun 21, 2018 |
| Perrault syndrome 1 | 1 | Sep 19, 2023 |
| Usher syndrome type 1D | 2 | Mar 16, 2021 |
| Usher syndrome type 1F | 1 | Mar 16, 2021 |
| Usher syndrome type 2A | 10 | Apr 19, 2020 |
| Usher syndrome type 3 | 2 | Apr 19, 2020 |
