Dept. of Cytogenetics (ICMR- National Institute of Immunohaematology), ICMR-NIIH
General information
Dept. of Cytogenetics, ICMR-NIIH
ICMR- National Institute of Immunohaematology
13th Floor, NMS building, KEM campus, Parel
Mumbai
Maharashtra
India - 400012
http://niih.org.in/
Organization ID: 508083
ICMR- National Institute of Immunohaematology
13th Floor, NMS building, KEM campus, Parel
Mumbai
Maharashtra
India - 400012
http://niih.org.in/
Organization ID: 508083
Personnel
- Niranjan Chavan, Staff
Phone: 8689855589
Email: chavanniranjan14@gmail.com - Somprakash Dhangar, Staff
Phone: +91-022-24138518
Email: spdhangar@gmail.com - Merin George, Staff
Phone: 9969565397
Email: meringeorge_94@yahoo.com - Nehakumari Maurya, Staff
Phone: 9702674595
Email: nmnehamaurya1320@gmail.com - Anjali Shah, Staff
Phone: 8286827228
Email: anjalishah8286@gmail.com - Jitendra Suralkar, Staff
Phone: +91-022-24138518
Email: dr.jitendravs@gmail.com - Babu Rao Vundinti, Lab Director
Phone: 9892463778
Email: vbaburao@hotmail.com - Babu Rao Vundinti, Lab Director
Phone: 9892463778
Email: vbaburao@hotmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 115
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AR | 9 | Feb 15, 2022 |
| BRCA2 | 1 | Sep 4, 2021 |
| DCLRE1B | 2 | Apr 11, 2023 |
| DHX37 | 1 | Sep 28, 2021 |
| DMRT2 | 1 | Sep 28, 2021 |
| FANCA | 30 | Sep 4, 2021 |
| FANCB | 1 | Sep 4, 2021 |
| FANCC | 1 | Sep 4, 2021 |
| FANCD2 | 9 | Sep 4, 2021 |
| FANCD2OS | 2 | Sep 4, 2021 |
| FANCE | 1 | Sep 4, 2021 |
| FANCF | 1 | Sep 4, 2021 |
| FANCG | 9 | Sep 4, 2021 |
| FANCI | 2 | Sep 4, 2021 |
| HSD17B3 | 1 | Feb 15, 2022 |
| ITPKB | 6 | Sep 19, 2022 |
| LMBRD1 | 1 | Jul 15, 2023 |
| LOC107303338 | 7 | Sep 4, 2021 |
| LOC109504725 | 1 | Dec 2, 2021 |
| LOC126807054 | 1 | Sep 19, 2022 |
| LOC129932672 | 2 | Sep 19, 2022 |
| LOC130003020 | 1 | Sep 19, 2022 |
| LOC130059837 | 1 | Sep 4, 2021 |
| M1AP | 1 | Nov 2, 2023 |
| MPL | 9 | Mar 14, 2023 |
| NF1 | 1 | Sep 19, 2022 |
| NOTCH1 | 3 | Sep 19, 2022 |
| NR5A1 | 3 | Feb 15, 2022 |
| PDGFRA | 4 | Sep 19, 2022 |
| PTEN | 3 | Sep 19, 2022 |
| RP1 | 1 | Nov 3, 2021 |
| RPS26 | 1 | Jul 15, 2023 |
| SLC35D2-HSD17B3 | 1 | Feb 15, 2022 |
| SLCO2A1 | 1 | Nov 2, 2023 |
| SPIRE2 | 1 | Sep 4, 2021 |
| SRD5A2 | 5 | Dec 2, 2021 |
| TCF3 | 6 | Sep 19, 2022 |
| TYR | 1 | Jan 12, 2021 |
| ZNF276 | 5 | Sep 4, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 5 | Dec 2, 2021 |
| 46,XY sex reversal 11 | 1 | Sep 28, 2021 |
| 46,XY sex reversal 3 | 3 | Feb 15, 2022 |
| Androgen resistance syndrome | 9 | Feb 15, 2022 |
| Congenital amegakaryocytic thrombocytopenia | 9 | Mar 14, 2023 |
| Diamond-Blackfan anemia 10 | 1 | Jul 15, 2023 |
| Fanconi anemia | 55 | Sep 4, 2021 |
| Fanconi anemia complementation group C | 2 | Apr 11, 2023 |
| Gonadal agenesis | 1 | Sep 28, 2021 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 1 | Nov 2, 2023 |
| Methylmalonic aciduria and homocystinuria type cblF | 1 | Jul 15, 2023 |
| Myeloproliferative neoplasm, unclassifiable | 23 | Sep 19, 2022 |
| Oculocutaneous albinism type 1B | 1 | Jan 12, 2021 |
| Retinitis pigmentosa 1 | 1 | Nov 3, 2021 |
| Spermatogenic failure 48 | 1 | Nov 2, 2023 |
| Testosterone 17-beta-dehydrogenase deficiency | 1 | Feb 15, 2022 |