Mount Sinai Diagnostic Laboratory (Icahn School of Medicine at Mount Sinai)
General information
Personnel
- Robert Desnick, Principal Investigator
Phone: 212-659-6700
Email: robert.desnick@mssm.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| HMBS | 3 | Dec 31, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Acute intermittent porphyria | 3 | Dec 31, 2019 |