Otogenetics Corporation
General information
Otogenetics Corporation
4553 Winters Chapel Road, Suite 100
Atlanta
Georgia
United States - 30360
https://www.otogenetics.com/
Organization ID: 505953
4553 Winters Chapel Road, Suite 100
Atlanta
Georgia
United States - 30360
https://www.otogenetics.com/
Organization ID: 505953
Personnel
- Ping Chen, Lab Director
Phone: 678-292-6854
Email: pchen@otogenetics.com - Victor Jiang, Lab Associate Director
Phone: 678-292-6854
Email: vjiang@otogenetics.com - Andrew King, Genetic Counselor
Phone: 678-292-6854
Email: aking@otogenetics.com - Allie Norse, Genetic Counselor
Phone: 678-292-6854
Email: anorse@otogenetics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 192
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA3 | 2 | May 14, 2026 |
| ACADM | 3 | Jul 7, 2026 |
| ACADVL | 1 | Jun 26, 2026 |
| AIRE | 1 | Jul 7, 2026 |
| ALDOB | 1 | Jun 15, 2026 |
| ALPL | 2 | Jul 31, 2026 |
| ANGPT2 | 1 | Jul 7, 2026 |
| ANO10 | 2 | Jul 31, 2026 |
| AOPEP | 2 | May 6, 2026 |
| ARSA | 2 | May 14, 2026 |
| ASL | 2 | Mar 23, 2026 |
| ASPA | 2 | Apr 30, 2026 |
| ATM | 3 | Jun 26, 2026 |
| ATP7B | 3 | Jul 7, 2026 |
| BARD1 | 1 | May 22, 2026 |
| BBS1 | 1 | May 22, 2026 |
| BLM | 7 | Jul 31, 2026 |
| BRCA1 | 1 | Jun 15, 2026 |
| BRCA2 | 3 | May 6, 2026 |
| C11orf65 | 2 | Jun 26, 2026 |
| CDC73 | 1 | Mar 23, 2026 |
| CFTR | 31 | Apr 23, 2026 |
| CFTR-AS1 | 2 | Apr 23, 2026 |
| CFTR-AS2 | 5 | Apr 23, 2026 |
| CHEK2 | 2 | Apr 30, 2026 |
| CLRN1 | 1 | Apr 30, 2026 |
| CLRN1-AS1 | 1 | Apr 30, 2026 |
| COL7A1 | 1 | May 22, 2026 |
| CPT2 | 1 | Mar 23, 2026 |
| CYP21A2 | 1 | Mar 23, 2026 |
| CYP27A1 | 1 | Jun 26, 2026 |
| DHCR7 | 1 | Nov 19, 2025 |
| DHFR | 1 | May 14, 2026 |
| DMD | 4 | Jun 15, 2026 |
| DUOX2 | 1 | Apr 30, 2026 |
| DYNC2H1 | 2 | Jun 26, 2026 |
| ERCC2 | 1 | Jul 31, 2026 |
| EVC2 | 1 | Nov 19, 2025 |
| FAH | 1 | Mar 23, 2026 |
| FANCC | 4 | Jun 26, 2026 |
| FH | 1 | Jun 15, 2026 |
| FKRP | 1 | Mar 23, 2026 |
| FLCN | 1 | May 14, 2026 |
| FMO3 | 2 | May 6, 2026 |
| GALT | 1 | May 14, 2026 |
| GBA1 | 3 | Jul 31, 2026 |
| GJB2 | 11 | Jun 26, 2026 |
| HBA1 | 2 | Jun 26, 2026 |
| HBB | 3 | Mar 23, 2026 |
| HEXA | 5 | Jun 26, 2026 |
| HOXB13 | 1 | Mar 23, 2026 |
| LOC106099062 | 3 | Mar 23, 2026 |
| LOC106627981 | 3 | Jul 31, 2026 |
| LOC106780800 | 1 | Mar 23, 2026 |
| LOC106804613 | 2 | Jun 26, 2026 |
| LOC107133510 | 3 | Mar 23, 2026 |
| LOC110006319 | 1 | Oct 6, 2025 |
| LOC111674472 | 2 | Apr 23, 2026 |
| LOC125446261 | 1 | Mar 23, 2026 |
| LOC126805916 | 1 | Mar 23, 2026 |
| LOC126863160 | 1 | Mar 23, 2026 |
| LRP2 | 1 | May 14, 2026 |
| MCOLN1 | 2 | May 22, 2026 |
| MCPH1 | 2 | Jul 7, 2026 |
| MCPH1-AS1 | 1 | Aug 13, 2025 |
| MITF | 1 | May 14, 2026 |
| MLC1 | 1 | Mar 23, 2026 |
| MMACHC | 2 | Jun 26, 2026 |
| MSH2 | 2 | Mar 23, 2026 |
| MSH3 | 1 | May 14, 2026 |
| MSH6 | 1 | May 14, 2026 |
| MUTYH | 2 | Oct 6, 2025 |
| NAGA | 1 | Mar 23, 2026 |
| NEB | 2 | Nov 19, 2025 |
| NTHL1 | 2 | May 14, 2026 |
| OCA2 | 2 | May 22, 2026 |
| PAH | 4 | Jul 7, 2026 |
| PALB2 | 4 | Mar 23, 2026 |
| PKHD1 | 8 | Jul 7, 2026 |
| PMM2 | 2 | May 22, 2026 |
| PMS2 | 4 | May 22, 2026 |
| POLG | 1 | Jul 31, 2026 |
| POLGARF | 1 | Jul 31, 2026 |
| PRF1 | 1 | Mar 23, 2026 |
| PTCH1 | 1 | May 14, 2026 |
| RIF1 | 1 | Aug 13, 2025 |
| SLC26A4 | 5 | Jul 7, 2026 |
| SLC26A4-AS1 | 1 | Mar 23, 2026 |
| SMN1 | 1 | Jul 31, 2026 |
| SMPD1 | 9 | Jul 8, 2026 |
| SPATA22 | 2 | Apr 30, 2026 |
| TSC1 | 1 | Jun 15, 2026 |
| TSC2 | 2 | Mar 23, 2026 |
| TYR | 2 | May 14, 2026 |
| USH2A | 3 | May 14, 2026 |
| ZDHHC24 | 1 | May 22, 2026 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Alagille syndrome due to a JAG1 point mutation | 1 test |
| Aminoglycoside-induced deafness | 1 test |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 test |
| Atrophia bulborum hereditaria | 1 test |
| Autoimmune lymphoproliferative syndrome type 1 | 1 test |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 test |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 28 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 2B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 40 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 48 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 test |
| Autosomal dominant nonsyndromic hearing loss 4B | 1 test |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 51 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 test |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 3 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 39 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 77 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 test |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 test |
| Autosomal recessive nonsyndromic hearing loss 91 | 1 test |
| Baraitser-Winter syndrome 1 | 1 test |
| Baraitser-winter syndrome 2 | 1 test |
| Bartter disease type 4A | 1 test |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 test |
| Branchiootorenal syndrome 2 | 1 test |
| Breast and colorectal cancer | 1 test |
| Breast and colorectal cancer, susceptibility to | 1 test |
| Breast cancer, early-onset | 1 test |
| Breast cancer, familial male | 1 test |
| Breast cancer, susceptibility to | 1 test |
| Breast neoplasm | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 1 test |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 test |
| Carcinoma of colon | 1 test |
| Cerebrooculofacioskeletal syndrome 2 | 1 test |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 test |
| Charcot-Marie-Tooth disease type 1E | 1 test |
| Charcot-Marie-Tooth disease, type IA | 1 test |
| Chudley-McCullough syndrome | 1 test |
| Colorectal cancer | 1 test |
| Corneal dystrophy-perceptive deafness syndrome | 1 test |
| Costello syndrome | 1 test |
| Cowden syndrome | 1 test |
| Craniofacial-deafness-hand syndrome | 1 test |
| Craniometaphyseal dysplasia, autosomal recessive | 1 test |
| DFNA 3 Nonsyndromic Hearing Loss and Deafness | 1 test |
| Deafness dystonia syndrome | 1 test |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 test |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
| Deafness-infertility syndrome | 1 test |
| Developmental malformations-deafness-dystonia syndrome | 1 test |
| Exudative vitreoretinopathy 2, X-linked | 1 test |
| Familial adenomatous polyposis 1 | 1 test |
| Familial cancer of breast | 1 test |
| Familial colorectal cancer | 1 test |
| Familial medullary thyroid carcinoma | 1 test |
| Familial pancreatic carcinoma | 1 test |
| Familial prostate cancer | 1 test |
| Fanconi anemia | 1 test |
| GJB4-Related Erythrokeratodermia Variabilis | 1 test |
| Genetic hearing loss | 1 test |
| Hereditary breast ovarian cancer syndrome | 1 test |
| Hereditary cancer-predisposing syndrome | 1 test |
| Hereditary diffuse gastric adenocarcinoma | 1 test |
| Hereditary disease | 1 test |
| Hereditary nonpolyposis colon cancer | 1 test |
| Hirschsprung disease, cardiac defects, and autonomic dysfunction | 1 test |
| Hirschsprung disease, susceptibility to, 2 | 1 test |
| Histidinemia | 1 test |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 test |
| Jervell and Lange-Nielsen syndrome 1 | 1 test |
| Jervell and Lange-Nielsen syndrome 2 | 1 test |
| Juvenile polyposis syndrome | 1 test |
| Li-Fraumeni syndrome | 1 test |
| Long QT syndrome 1 | 1 test |
| Long QT syndrome 5 | 1 test |
| MELAS syndrome | 1 test |
| MERRF syndrome | 1 test |
| Malignant tumor of urinary bladder | 1 test |
| Mandibulofacial dysostosis with alopecia | 1 test |
| Melanoma-pancreatic cancer syndrome | 1 test |
| Mitochondrial non-syndromic sensorineural hearing loss | 1 test |
| Muenke syndrome | 1 test |
| Multiple endocrine neoplasia, type 1 | 1 test |
| Multiple endocrine neoplasia, type 2 | 1 test |
| Netherton syndrome | 1 test |
| Nijmegen breakage syndrome-like disorder | 1 test |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 1 test |
| Nonsyndromic Deafness | 1 test |
| Ocular albinism with congenital sensorineural hearing loss | 1 test |
| PTEN hamartoma tumor syndrome | 1 test |
| Pendred syndrome | 1 test |
| Peutz-Jeghers syndrome | 1 test |
| Pili torti-deafness syndrome | 1 test |
| Renal tubular acidosis with progressive nerve deafness | 1 test |
| Sensorineural hearing loss disorder | 1 test |
| Short QT syndrome type 2 | 1 test |
| Spermatogenic failure 7 | 1 test |
| Stickler syndrome | 1 test |
| Urinary bladder carcinoma | 1 test |
| Usher syndrome type 1 | 2 tests |
| Usher syndrome type 1C | 2 tests |
| Usher syndrome type 1D | 2 tests |
| Usher syndrome type 1F | 2 tests |
| Usher syndrome type 1G | 2 tests |
| Usher syndrome type 2A | 2 tests |
| Usher syndrome type 2C | 2 tests |
| Usher syndrome type 2D | 2 tests |
| Usher syndrome type 3 | 2 tests |
| Usher syndrome, type IIC, GPR98/PDZD7 digenic | 2 tests |
| Von Hippel-Lindau syndrome | 1 test |
| Waardenburg syndrome type 1 | 1 test |
| Waardenburg syndrome type 2D | 1 test |
| Waardenburg syndrome type 3 | 1 test |
| X-linked deafness | 1 test |
| X-linked mixed hearing loss with perilymphatic gusher | 1 test |
| Xeroderma pigmentosum group B | 1 test |
| Zimmermann-Laband syndrome 2 | 1 test |