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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)
Pathogenic
Marfan syndrome2024-08-22
1.0
ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1FBN1
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