Showing 1 to 2 of 2 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000546.5(TP53):c.743G>T (p.Arg248Leu)
Pathogenic
Li-Fraumeni syndrome2024-08-05
1.1
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.0.0TP53
View NM_000546.5(TP53):c.743G>T (p.Arg248Leu)
Pathogenic
Li-Fraumeni syndrome2020-01-24
1.0
-TP53
Showing 1 to 2 of 2 rows