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: CA151230 126630
VCEP: Hereditary Breast, Ovarian and Pancreatic Cancer VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) | Benign | hereditary breast cancer | 2023-04-07 | 1.0 | ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.0.0 | PALB2 |
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