Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_004958.3(MTOR):c.5930C>A (p.Thr1977Lys) | Pathogenic | overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 2022-02-12 | 2.0 | - | MTOR |
| View | NM_004958.3(MTOR):c.5930C>A (p.Thr1977Lys) | Pathogenic | cerebral malformation | 2021-09-27 | 1.0 | - | MTOR |
Showing 1 to 2 of 2 rows