Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

(2018) Alex Henrie et al.   HUMAN MUTATION

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

(2017) Matthew S Lebo et al.   GENETICS IN MEDICINE

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

Sources of discordance among germ-line variant classifications in ClinVar

(2017) Shan Yang et al.   GENETICS IN MEDICINE

Efforts Toward Consensus Variant Interpretation by Commercial Laboratories

(2017) Jill S. Dolinsky et al.   JOURNAL OF CLINICAL ONCOLOGY

Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes

(2017) Robert L. Nussbaum et al.   JOURNAL OF CLINICAL ONCOLOGY

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory

(2017) William Gradishar et al.   ONCOLOGIST

Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test InterpretationCLINICAL PERSPECTIVE

(2017) Aisha Furqan et al.   Circulation-Cardiovascular Genetics

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

(2016) Kathryn B. Garber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

(2016) Judith Balmaña et al.   JOURNAL OF CLINICAL ONCOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE