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: CA016208 161245
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.59A>G (p.Tyr20Cys)
Uncertain Significance
Marfan syndrome2022-12-01
1.0
ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1FBN1
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