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Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

11 Oct 2018

Abstract excerpt

The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular diagnosticians with PTEN expertise to develop specifications to the 2015 ACMG/AMP Sequence Variant Interpretation Guidelines for PTEN variant interpretation. We describe finalized PTEN-specific variant classification criteria and outcomes from pilot testing...

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PMID: 30311380
DOI: 10.1002/humu.23636

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