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: CA16614383 412056
VCEP: DICER1 and miRNA-Processing Gene VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_177438.3(DICER1):c.1423A>T (p.Ser475Cys) | Uncertain Significance | DICER1-related tumor predisposition | 2024-07-30 | 1.0 | ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.3.0 | DICER1 |
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