Showing 1 to 2 of 2 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)
Pathogenic
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes2022-02-11
2.0
-MTOR
View NM_004958.3(MTOR):c.4379T>C (p.Leu1460Pro)
Pathogenic
cerebral malformation2021-09-27
1.0
-MTOR
Showing 1 to 2 of 2 rows