Institute of Bioinformatics
General information
Institute of Bioinformatics
Unit 1, 7th Floor, Discoverer Building, ITPB, Whitefield Road
Bangalore
Karnataka
India - 560066
http://www.ibioinformatics.org
Organization ID: 506863
Unit 1, 7th Floor, Discoverer Building, ITPB, Whitefield Road
Bangalore
Karnataka
India - 560066
http://www.ibioinformatics.org
Organization ID: 506863
Personnel
- Babylakshmi Muthusamy, Principal Investigator
Phone: 08028416140
Email: babylakshmi@ibioinformatics.org - Dr. Akhilesh Pandey, Lab Director
Phone: 08028416140
Email: Pandey.Akhilesh@mayo.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 8
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alkuraya-Kucinskas syndrome | 1 | Jun 12, 2020 |
| Autosomal recessive spinocerebellar ataxia 17 | 2 | Apr 10, 2023 |
| Charcot-Marie-Tooth disease type 4D | 1 | Aug 24, 2021 |
| Intellectual disability | 1 | Jul 16, 2020 |
| Spastic paraplegia | 1 | Jul 23, 2020 |
| Trigonocephaly-short stature-developmental delay syndrome | 1 | Jan 28, 2019 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Oct 27, 2020 |