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 |