Molecular Endocrinology Laboratory (Christian Medical College)
General information
Molecular Endocrinology Laboratory
Christian Medical College
Ida Scudder road
Vellore
Tamil Nadu
India - 632004
https://www.cmch-vellore.edu/
Organization ID: 508251
Christian Medical College
Ida Scudder road
Vellore
Tamil Nadu
India - 632004
https://www.cmch-vellore.edu/
Organization ID: 508251
Personnel
- Molecular Laboratory, Lab Director
Phone: 04162282181
Email: aaronchapla@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 133
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ASTN2 | 2 | Feb 3, 2022 |
| BBIP1 | 1 | Feb 3, 2022 |
| BBS1 | 2 | Feb 3, 2022 |
| BBS10 | 1 | Feb 3, 2022 |
| BBS2 | 1 | Feb 3, 2022 |
| BBS4 | 3 | Feb 3, 2022 |
| BBS7 | 2 | Feb 3, 2022 |
| BRCA1 | 45 | Dec 7, 2021 |
| BRCA2 | 35 | Dec 7, 2021 |
| CAST | 2 | Feb 3, 2022 |
| CEP290 | 2 | Feb 3, 2022 |
| CYP11B1 | 5 | Sep 17, 2021 |
| CYP19A1 | 1 | Sep 17, 2021 |
| CYP21A2 | 4 | Sep 17, 2021 |
| LEPR | 1 | Feb 3, 2022 |
| LOC101929710 | 2 | Feb 3, 2022 |
| LOC106780800 | 4 | Sep 17, 2021 |
| LOC106799833 | 5 | Sep 17, 2021 |
| LOC126862571 | 3 | Dec 7, 2021 |
| LOC129933280 | 1 | Feb 3, 2022 |
| MC4R | 4 | Feb 3, 2022 |
| MIR4713HG | 1 | Sep 17, 2021 |
| MKS1 | 2 | Feb 3, 2022 |
| NR0B2 | 1 | Feb 3, 2022 |
| NUDC | 1 | Feb 3, 2022 |
| PCSK1 | 2 | Feb 3, 2022 |
| PIRC66 | 1 | Sep 17, 2021 |
| POMC | 1 | Feb 3, 2022 |
| SDCCAG8 | 1 | Feb 3, 2022 |
| TRIM32 | 2 | Feb 3, 2022 |
| TTC8 | 2 | Feb 3, 2022 |
| VPS13B | 5 | Feb 3, 2022 |
| WDPCP | 2 | Feb 3, 2022 |
| WFS1 | 8 | Sep 17, 2021 |
| ZDHHC24 | 1 | Feb 3, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 4 | Feb 3, 2022 |
| Bardet-Biedl syndrome 1 | 2 | Feb 3, 2022 |
| Bardet-Biedl syndrome 10 | 1 | Feb 3, 2022 |
| Bardet-Biedl syndrome 11 | 2 | Feb 3, 2022 |
| Bardet-Biedl syndrome 13 | 2 | Feb 3, 2022 |
| Bardet-Biedl syndrome 14 | 2 | Feb 3, 2022 |
| Bardet-Biedl syndrome 15 | 2 | Feb 3, 2022 |
| Bardet-Biedl syndrome 16 | 1 | Feb 3, 2022 |
| Bardet-Biedl syndrome 18 | 1 | Feb 3, 2022 |
| Bardet-Biedl syndrome 2 | 1 | Feb 3, 2022 |
| Bardet-Biedl syndrome 4 | 3 | Feb 3, 2022 |
| Bardet-Biedl syndrome 7 | 2 | Feb 3, 2022 |
| Bardet-Biedl syndrome 8 | 2 | Feb 3, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 45 | Dec 7, 2021 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 35 | Dec 7, 2021 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 5 | Sep 17, 2021 |
| Cohen syndrome | 5 | Feb 3, 2022 |
| Deficiency of steroid 11-beta-monooxygenase | 5 | Sep 17, 2021 |
| Obesity | 2 | Feb 3, 2022 |
| Obesity due to leptin receptor gene deficiency | 1 | Feb 3, 2022 |
| Obesity due to prohormone convertase I deficiency | 2 | Feb 3, 2022 |
| Wolfram syndrome 1 | 8 | Sep 17, 2021 |