ClinVar has become a go-to resource for the clinical genetics community. You have come to ClinVar to look for the reported clinical significance of human genetic variants that you’ve identified in clinical testing or through your research. You have researched the supporting evidence and publications to the benefit of the health and genetic science community . You have surveyed all available variants within a gene to understand the spectrum of variation for that gene and to curate gene-disease relationships.
We know how critical this information is to you on a daily basis.
We keep ClinVar free and publicly available and work closely with our submitters to add more variants and supporting information, so that you can continue to benefit from this reliable information at your fingertips.
Today, we are proud to announce that ClinVar has passed the milestone of one million variants in our database.
Here are a few stories from our community about the work they do to enhance the data in ClinVar and the use of ClinVar variants in their work:
- Clinical laboratories collaborated to resolve differences in variant interpretations submitted to ClinVar
- ClinVar provided a connection between a patient and clinical testing laboratories, leading to the reclassification of the patient’s variant from VUS to Likely benign
- CRISPR-Cas9 technology was used to generate a library of single guide RNAs (sgRNAs) predicted to generate 52K variants in ClinVar to be used for massively parallel functional studies
- The H3Africa Consortium found a number of ‘likely pathogenic’ variants in ClinVar that were commonly observed in African populations
- Genes associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) were reappraised in an evidence-based approach, including variants and their interpretations reported to ClinVar
- Variants identified during whole genome sequencing as an integral part of a healthcare setting in Stockholm, Sweden are submitted to ClinVar.
A special thanks to the ClinVar submitter community, who take the time and effort to share their knowledge, because they care about improving our understanding of genomic variation and resolving differences with other ClinVar submitters.
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