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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) | Pathogenic | telangiectasia, hereditary hemorrhagic, type 2 | 2024-03-15 | 1.0 | ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACVRL1 Version 1.0.0 | ACVRL1 |
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