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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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) | Uncertain Significance | Marfan syndrome | 2022-12-01 | 1.0 | - | FBN1 |
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