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

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 interpre...

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Bibliografische gegevens
Gepubliceerd in:J Mol Diagn
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Investigative Pathology 2021
Onderwerpen:
Regular Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8188618/
https://ncbi.nlm.nih.gov/pubmed/33631351
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2021.01.014
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