National Newborn Screening Laboratory (Hospital Nacional de Niños), LAB-PNT
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 31
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Maple syrup urine disease | 11 | Feb 2, 2022 |
Maturity-onset diabetes of the young type 2 | 17 | May 5, 2022 |
Maturity-onset diabetes of the young type 3 | 3 | May 16, 2022 |