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: CA1589147 774811
VCEP: RASopathy VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_002709.3(PPP1CB):c.27C>T (p.Asp9=) | Benign | RASopathy | 2024-10-01 | 1.1 | ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PPP1CB Version 1.1.0 | PPP1CB |
| View | NM_002709.3(PPP1CB):c.27C>T (p.Asp9=) | Benign | RASopathy | 2024-09-26 | 1.0 | - | PPP1CB |
Showing 1 to 2 of 2 rows