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Article

An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology.

The Journal of molecular diagnostics : JMD - 1 Jun 2022

Lyon Elaine, Temple-Smolkin Robyn L, Hegde Madhuri, Gastier-Foster Julie M, Palomaki Glenn E, Richards C Sue

Abstract excerpt

The Association for Molecular Pathology Variant Interpretation Testing Among Laboratories (VITAL) Working Group convened to evaluate the Standards and Guidelines for the Interpretation of Sequence Variants implementation into clinical practice, identify problematic classification rules, and define implementation challenges. Variants and associated clinical information were provided to volunteer respondents....

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Identifiers

PMID: 35429647
DOI: 10.1016/j.jmoldx.2021.12.014

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