The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA392336264 547340
VCEP: FBN1 VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) | Pathogenic | Marfan syndrome | 2024-08-22 | 1.0 | ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | FBN1 |
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