NCBI Resource — ClinVar

Have you tried ClinVar from NCBI? ClinVar is a fairly new database from NCBI that offers data from clinical genetic testing and literature in a one-stop-shop. ClinVar pulls together information from a variety of resources about sequence variation and how it relates to human health.

from ClinVar:

ClinVar is designed to provide a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. By so doing, ClinVar facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar collects reports of variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible.

NCBI has provides access to helpful information, such as  Nomenclature and a Data Dictionary, ClinVar documents (FTP site), and a ClinVar News and Announcements RSS feed.

The ClinVar Help page gives users a lot of information to get started using this database.

 

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