Showing 1 to 3 of 3 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
Pathogenic
antithrombin III deficiency2025-02-07
1.2
ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.1.0SERPINC1
View NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
Pathogenic
antithrombin III deficiency2025-02-07
1.1
-SERPINC1
View NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
Pathogenic
antithrombin III deficiency2024-10-02
1.0
-SERPINC1
Showing 1 to 3 of 3 rows