Garcia Pulmonary Genetics Research Laboratory (Columbia University Irving Medical Center)
General information
Personnel
- Christine Garcia, Principal Investigator
Phone: 2123059817
Email: ckg2116@cumc.columbia.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 132
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| DKC1 | 2 | Jul 12, 2022 |
| KIF15 | 11 | Jul 12, 2022 |
| LOC110806263 | 6 | Jul 12, 2022 |
| LOC110806306 | 8 | Jul 12, 2022 |
| NAF1 | 5 | Jul 12, 2022 |
| PARN | 15 | Jul 12, 2022 |
| RTEL1 | 18 | Jul 12, 2022 |
| RTEL1-TNFRSF6B | 18 | Jul 12, 2022 |
| SFTPA2 | 1 | Jul 12, 2022 |
| SFTPC | 5 | Jul 12, 2022 |
| TERC | 10 | Jul 12, 2022 |
| TERT | 64 | Jul 12, 2022 |
| TINF2 | 1 | Jul 12, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Pulmonary fibrosis | 121 | Jul 12, 2022 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 11 | May 23, 2022 |