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ClinVar: public archive of interpretations of clinically relevant variants

PDF] Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts | Semantic Scholar

ClinVar - ClinGen | Clinical Genome Resource

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar | Genetics in Medicine

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades | Scientific Reports

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Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single‐center study - Gall - Molecular Genetics & Genomic Medicine - Wiley Online Library

ClinVar Archives - NCBI Insights

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer | Nature Genetics

Frontiers | An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China

New ClinVar graphical display - NCBI Insights

New ClinVar graphical display - NCBI Insights

PDF] ClinVar: public archive of relationships among sequence variation and human phenotype | Semantic Scholar

PDF] Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database | Semantic Scholar

Refinement of the clinical variant interpretation framework by statistical evidence and machine learning

New ClinVar graphical display - NCBI Insights

Cells | Free Full-Text | A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder

Frontiers | Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer | Nature Genetics

Sources of discordance among germ-line variant classifications in ClinVar | Genetics in Medicine

Using ClinVar as a Resource to Support Variant Interpretation. - Abstract - Europe PMC

Genes | Free Full-Text | Annotation of Human Exome Gene Variants with Consensus Pathogenicity

PDF] ClinVar: public archive of interpretations of clinically relevant variants | Semantic Scholar