Columbia University Laboratory of Personalized Genomic Medicine (Columbia University Medical Center), CUPGM
General information
Columbia University Laboratory of Personalized Genomic Medicine, CUPGM
Columbia University Medical Center
630 W 168th Street
PS17-401
New York
New York
United States - 10032
http://pathology.columbia.edu/diagnostic/molecular_diagnostics.html
Organization ID: 500041
Columbia University Medical Center
630 W 168th Street
PS17-401
New York
New York
United States - 10032
http://pathology.columbia.edu/diagnostic/molecular_diagnostics.html
Organization ID: 500041
Personnel
- Hemant Varma
Phone: 212-305-1476
Email: hv2108@columbia.edu - Ali Naini, Lab Director
Phone: 212-305-1476
Email: abn2@columbia.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 17
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALK | 1 | Apr 17, 2019 |
| COQ4 | 1 | Apr 12, 2017 |
| CPT2 | 1 | Aug 4, 2022 |
| DNAAF11 | 1 | Feb 8, 2021 |
| FGFR2 | 1 | Mar 14, 2020 |
| MILR1 | 1 | Aug 4, 2016 |
| POLG | 1 | Nov 9, 2020 |
| POLG2 | 1 | Aug 4, 2016 |
| POLGARF | 1 | Nov 9, 2020 |
| PROM1 | 2 | Oct 28, 2019 |
| PYGM | 3 | Oct 18, 2021 |
| RET | 1 | Feb 14, 2019 |
| SLMAP | 1 | Apr 17, 2019 |
| SOD1 | 1 | Oct 22, 2019 |
| TAF1A | 2 | Sep 22, 2022 |
| VPS35 | 1 | Mar 14, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acute liver failure | 1 | Aug 4, 2016 |
| Amyotrophic lateral sclerosis type 1 | 1 | Oct 22, 2019 |
| Cardiomyopathy, familial restrictive, 6 | 2 | Sep 22, 2022 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 | Aug 4, 2022 |
| Glioma | 1 | Mar 14, 2020 |
| Glycogen storage disease, type V | 2 | Oct 14, 2021 |
| Leber congenital amaurosis 1 | 2 | Oct 28, 2019 |
| Lung carcinoma | 1 | Apr 17, 2019 |
| Medullary thyroid carcinoma | 1 | Feb 14, 2019 |
| Muscular atrophy | 1 | Oct 18, 2021 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 1 | Apr 12, 2017 |
| Pleomorphic xanthoastrocytoma | 1 | Mar 30, 2017 |
| Primary ciliary dyskinesia 19 | 1 | Feb 8, 2021 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | Nov 9, 2020 |