Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital (Bhabha Atomic Research Centre), CAMG
General information
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, CAMG
Bhabha Atomic Research Centre
Anushaktinagar
Mumbai
Maharashtra
India - 400094
http://www.barc.gov.in
Organization ID: 506007
Bhabha Atomic Research Centre
Anushaktinagar
Mumbai
Maharashtra
India - 400094
http://www.barc.gov.in
Organization ID: 506007
Personnel
- Shagufta Shaikh, Principal Investigator
Phone: 91-22-25598359
Email: shags@barc.gov.in - Suresh Shettigar, Principal Investigator
Phone: 91-22-25598359
Email: sureshs@barc.gov.in
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3-M syndrome | 1 | Feb 27, 2020 |
| Autosomal recessive nonsyndromic hearing loss 103 | 1 | Feb 22, 2024 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Feb 22, 2024 |
| Epidermolysis bullosa, junctional 3B, severe | 1 | Apr 16, 2024 |
| Hearing impairment | 1 | Apr 25, 2023 |
| Hearing loss, X-linked 6 | 1 | Feb 22, 2024 |
| Majeed syndrome | 1 | May 26, 2021 |
| Malan overgrowth syndrome | 1 | Apr 18, 2024 |
| Sensorineural hearing loss disorder | 1 | Jan 9, 2023 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Nov 3, 2021 |