Article
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
The Journal of molecular diagnostics : JMD - 1 May 2021
Morales Ana, Ing Alexander, Antolik Christian, Austin-Tse Christina, Baudhuin Linnea M, Bronicki Lucas, Cirino Allison, Hawley Megan H, Fietz Michael, Garcia John, Ho Carolyn, Ingles Jodie, Jarinova Olga, Johnston Tami, Kelly Melissa A, Kurtz C Lisa, Lebo Matt, Macaya Daniela, Mahanta Lisa, Maleszewski Joseph, Manrai Arjun K, Murray Mitzi, Richard Gabriele, Semsarian Chris, Thomson Kate L, Winder Tom, Ware James S, Hershberger Ray E, Funke Birgit H, Vatta Matteo
Abstract excerpt
Diagnostic laboratories gather phenotypic data through requisition forms, but there is no consensus as to which data are essential for variant interpretation. The ClinGen Cardiomyopathy Variant Curation Expert Panel defined a phenotypic data set for hypertrophic cardiomyopathy (HCM) variant interpretation, with the goal of standardizing requisition forms. Phenotypic data elements listed on requisition forms from...
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