Showing 1 to 4 of 4 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) | Likely Benign | Marfan syndrome | 2022-12-01 | 2.0 | ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | FBN1 |
| View | NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) | Uncertain Significance | Marfan syndrome | 2022-12-01 | 1.2 | ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | FBN1 |
| View | NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) | Uncertain Significance | Marfan syndrome | 2022-12-01 | 1.1 | ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | FBN1 |
| View | NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) | Uncertain Significance | Marfan syndrome | 2022-12-01 | 1.0 | ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | FBN1 |
Showing 1 to 4 of 4 rows