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: CA7330936 242101
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.4189T>C (p.Trp1397Arg) | Likely Benign | DICER1-related tumor predisposition | 2024-01-17 | 1.0 | ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.2.0 | DICER1 |
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