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: CA158288 133976
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.5516G>A (p.Arg1839Gln) | Uncertain Significance | dicer1 syndrome | 2023-05-12 | 1.0 | ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.1.0 | DICER1 |
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