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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) | Uncertain Significance | colorectal cancer, hereditary nonpolyposis, type 4 | 2025-05-30 | 2.0 | ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PMS2 Version 1.0.0 | PMS2 |
| View | NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) | Uncertain Significance | Lynch syndrome 1 | 2024-10-11 | 1.0 | ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PMS2 Version 1.0.0 | PMS2 |
Showing 1 to 2 of 2 rows