Service de Biologie Medicale (CIUSSS du Saguenay-Lac-Saint-Jean), CIUSSS_SLSJ
General information
Personnel
- Tania Cruz Marino, Principal Investigator
Phone: 4185411234
Email: [email protected] - Marie-Jacqueline Thomas, Genetic Counselor
Phone: 4185411234
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 15 | 1 | Jun 5, 2021 |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 | Jun 5, 2021 |
| Autosomal recessive nonsyndromic hearing loss 84B | 2 | Jun 5, 2021 |
| Hearing loss, autosomal recessive 57 | 1 | Jun 5, 2021 |
| Heimler syndrome 2 | 1 | Jun 5, 2021 |
| KBG syndrome | 1 | Jun 5, 2021 |
| Rafiq syndrome | 1 | Jun 1, 2022 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 1 | Jun 1, 2022 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Jun 5, 2021 |