Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
Open Access
- 16 March 2017
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 19 (10), 1096-1104
- https://doi.org/10.1038/gim.2017.14
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Analysis of protein-coding genetic variation in 60,706 humansNature, 2016
- Variation in Mammographic Breast Density Assessments Among Radiologists in Clinical PracticeAnnals of Internal Medicine, 2016
- Consideration of Cosegregation in the Pathogenicity Classification of Genomic VariantsAmerican Journal of Human Genetics, 2016
- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic MedicineAmerican Journal of Human Genetics, 2016
- Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast CancerAmerican Journal of Human Genetics, 2016
- The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratoriesGenetics in Medicine, 2016
- ClinGen — The Clinical Genome ResourceNew England Journal of Medicine, 2015
- Diagnostic Concordance Among Pathologists Interpreting Breast Biopsy SpecimensJAMA, 2015
- Actionable exomic incidental findings in 6503 participants: challenges of variant classificationGenome Research, 2015
- ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genesHuman Mutation, 2011