ClinVar: public archive of interpretations of clinically relevant ...
Primary data submissions to ClinVar can help expert groups focus their curation efforts on variants of uncertain significance or those with conflicts in interpretation. The resulting interpretations from …
Sources of data in ClinVar
Jan 25, 2024 · ClinVar provides links back to those databases by allele. We look forward to expanding this data set. Research studies ClinSeq ® , PubMed 22703879 was the first group to request ClinVar …
ClinVar at Five Years: Delivering on the Promise - PMC
The increasing application of genetic testing for determining the causes underlying Mendelian, pharmacogenetic, and somatic phenotypes has accelerated the discovery of novel variants by …
ClinVar: public archive of interpretations of clinically relevant ...
Jan 4, 2016 · ClinVar staff review validation reports with data types such as HGVS (Human Genome Variation Society) expressions; however, clinical significance is reported directly from submitters. …
New ClinVar graphical display - NCBI Insights
Aug 30, 2022 · New ClinVar graphical display Maps clinically significant variants by gene and position! ClinVar is a freely accessible, public archive of reports of the relationships between human variations …
ClinVar: improving access to variant interpretations and supporting ...
Jan 4, 2018 · ClinVar continues to make improvements to its search and retrieval functions. Several new fields are now indexed for more precise searching, and filters allow the user to narrow down a large …
Submitters and their submissions - National Center for Biotechnology ...
Jan 12, 2016 · ClinVar archives and aggregates information about relationships among variation and human health.
ClinVar
ClinVar archives and aggregates information about relationships among variation and human health.
Names of clinical features, conditions, genes, proteins, and variants ...
Jan 13, 2023 · ClinVar, GTR, and MedGen all support searching and display for both preferred and alternate names. The full XML extract of ClinVar also includes the sources of the alternate names. …
VCV000017677.157 - ClinVar - NCBI
ClinVar Genomic variation as it relates to human health ClinVar Advanced search About Introduction Data authorities Clinical significance HGVS expressions Submitters Data dictionary