Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Curation History

Variant: CA214330 36831
VCEP: Monogenic Diabetes VCEP
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Showing 1 to 5 of 5 rows
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Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser)
Likely Pathogenic
monogenic diabetes2025-08-05
1.4
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 3.0.0HNF1A
View NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser)
Likely Pathogenic
monogenic diabetes2024-08-07
1.3
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.1.0HNF1A
View NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser)
Likely Pathogenic
monogenic diabetes2024-08-02
1.2
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.1.0HNF1A
View NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser)
Likely Pathogenic
monogenic diabetes2022-07-11
1.1
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1HNF1A
View NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser)
Likely Pathogenic
monogenic diabetes2021-12-09
1.0
-HNF1A
Showing 1 to 5 of 5 rows
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