Showing 1 to 5 of 5 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)
Likely Pathogenic
Rett syndrome2024-12-20
2.3
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0MECP2
View NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)
Likely Pathogenic
Rett syndrome2024-12-20
2.2
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0MECP2
View NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)
Likely Pathogenic
Rett syndrome2024-11-29
2.1
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0MECP2
View NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)
Likely Pathogenic
Rett syndrome2024-11-29
2.0
-MECP2
View NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)
Likely Pathogenic
Rett syndrome2021-12-27
1.0
-MECP2
Showing 1 to 5 of 5 rows