The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA16610570 409828
VCEP: Pulmonary Hypertension VCEP
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) | Likely Benign | pulmonary arterial hypertension | 2024-09-20 | 1.1 | ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0 | BMPR2 |
| View | NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) | Likely Benign | pulmonary arterial hypertension | 2024-05-03 | 1.0 | ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0 | BMPR2 |
Showing 1 to 2 of 2 rows