What are ClinVar diseases?

What are ClinVar diseases?

ClinVar aggregates the names of medical conditions with a genetic basis from such sources as SNOMED CT, GeneReviews, Genetic Home Reference, Office of Rare Diseases, MeSH, and OMIM®. ClinVar also aggregates descriptions of associated traits from Human Phenotype Ontology (HPO), OMIM, and other sources.

What is ClinVar significance?

ClinVar is an archive for assertions of clinical significance made by our submitters. If multiple groups have reported different values for clinical significance for the same variant, we report that there is a conflict and show all of the submitted values for clinical significance.

What does conflicting interpretations of pathogenicity mean?

In ClinVar, if differences in interpretation among submitters are observed, the genetic test results are classified as conflicting interpretation of pathogenicity. 7. A search for any update in reclassification was performed at the time of data analysis lock, with no change.

What does benign mean in ClinVar?

Benign/Likely benign. Any single ACMG value AND any non-ACMG value, e.g. Uncertain significance and risk factor. Uncertain significance, risk factor. Conflicting ACMG values AND any non-ACMG value, e.g. Pathogenic and Uncertain significance and risk factor. Conflicting interpretations of pathogenicity, risk factor.

How do I find ClinVar?

Common queries Just type your search term, and click on the Search button to the right of the search box. ClinVar can be searched with terms like: gene symbols, e.g. PTEN. HGVS expressions, e.g. NM_000314.

What is the difference between ClinGen and ClinVar?

ClinGen is providing input to ClinVar on the structure and layout of the database that is instrumental to its development. However, ClinVar is not subsumed by ClinGen and aims to develop a database and interface that are responsive to all potential users.

How often is ClinVar updated?

Methods to access the data The data in ClinVar’s web site are updated weekly, on Mondays.

How many pathogenic variants are in ClinVar?

curated 43 variants classified in ClinVar as pathogenic (P)/likely pathogenic (LP) that were insufficiently rare in at least one ExAC population and found that 42 of them should be reclassified as variant of uncertain significance (VUS)6.

What does probable pathogenic mean?

Likely pathogenic: There is a high likelihood (greater than 90% certainty) that this variant is disease-causing. Additional evidence is expected to confirm this assertion of pathogenicity, but there is a small chance that new evidence may demonstrate that this variant does not have clinical significance.

What is Triplosensitivity?

Haploinsufficiency describes a genetic relationship in a diploid organism in which loss of one copy of a gene causes a phenotype. The converse is triplosensitivity, in which an additional copy of a gene produces a phenotype.

When did ClinVar start?

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.