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Celebrating One Million Records: An Open-access Database for Clinical Geneticists
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Celebrating One Million Records: An Open-access Database for Clinical Geneticists

Celebrating One Million Records: An Open-access Database for Clinical Geneticists
News

Celebrating One Million Records: An Open-access Database for Clinical Geneticists

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ClinVar has announced the submission of the one-millionth record to its open-access database. The millionth submission was published on Friday, December 20, 2019, a milestone achievement for providing open access to human variant data with asserted consequences to the clinical genetics and research communities.

Each submission has represented a step towards progress for the community and patients alike. Since ClinVar’s inception in 2013, ClinVar has garnered over 568,000 unique variants from these one million submissions. Expert panels have improved data quality and assertions of clinical significance for records by providing expert-curated interpretations of variants. The first expert panel to share interpretations was the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) in 2013, followed by CFTR2, ENIGMA, and PharmGKB.

With the addition of 7 more expert panels, all developed by ClinGen, ClinVar now has 11 panels that have provided more than 10,000 expert-curated variants. This database, being made freely accessible and with valuable, crowdsourced clinical context to the data, has become part of the workflow of genetics researchers and clinical genetics testing laboratories.

Over the past six years, ClinVar has grown into a broad, international resource, receiving submissions from more than 1,300 organizations from 73 countries. Every month, ClinVar receives and processes an average of 13,600 submitted records, representing an average of 9,200 distinct variants. These submissions come primarily from organizations performing clinical testing, with the remainder coming from organizations performing research, and other sources, including locus-specific databases (LSDBs), expert panels, and resources such as OMIM®, GeneReviews®, and UniProt. ClinVar also invites clinicians and patient registries to submit phenotypic data for patients who have had genetic testing, since clinical testing laboratories rarely receive this information.

As part of ClinVar’s commitment to open data, the ClinVar team has strived to ensure this data is made accessible in a timely fashion while maintaining the highest levels of accuracy and data quality.

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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