Clinical Bioinformatic Lab (Royan Institute), CBL
General information
Personnel
- Mehdi Totonchi, Lab Director
Phone: +989127387805
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADCY10 | 1 | May 17, 2018 |
| CATSPERB | 1 | Dec 24, 2023 |
| DCAF6 | 1 | May 17, 2018 |
| DLX3 | 1 | Nov 30, 2021 |
| IFNAR2-IL10RB | 2 | Dec 6, 2023 |
| IL10RB | 2 | Dec 6, 2023 |
| KIF3B | 1 | Mar 24, 2020 |
| L3MBTL2 | 1 | Dec 24, 2023 |
| LOC130066558 | 1 | Dec 6, 2023 |
| MSH4 | 3 | Apr 8, 2020 |
| NLRC4 | 1 | Dec 6, 2023 |
| PDCL2 | 1 | Dec 20, 2023 |
| PNLDC1 | 2 | Jan 1, 2022 |
| SLC26A3 | 1 | Jun 28, 2023 |
| STAG3 | 4 | Mar 24, 2021 |
| USP26 | 2 | Jan 9, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal sperm morphology | 1 | May 17, 2018 |
| Congenital secretory diarrhea, chloride type | 1 | Jun 28, 2023 |
| Inflammatory bowel disease 25 | 2 | Dec 6, 2023 |
| Male infertility | 3 | Jan 9, 2024 |
| Non-obstructive azoospermia | 5 | Dec 24, 2023 |
| Oligospermia | 3 | Jan 1, 2022 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 | Dec 6, 2023 |
| Premature ovarian insufficiency | 3 | Mar 24, 2021 |
| Reduced sperm motility | 1 | May 17, 2018 |
| Spermatogenic failure, X-linked, 6 | 1 | Jun 28, 2023 |
| Uterine leiomyoma | 1 | Nov 30, 2021 |