Showing 1 to 1 of 1 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly)
Likely Pathogenic
monogenic diabetes2024-01-28
1.0
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.1.0HNF1A
Showing 1 to 1 of 1 rows