What does ClinVar stand for?

What does ClinVar stand for?

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence.

How many SNPs are in ClinVar?

five SNPs
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Name Abbreviation
Variant name [varnam] Name of the allele.
Variation ID [uid] The ClinVar identifier for the variant or set of variants that were interpreted. e.g. for a haplotype of five SNPs, the set of five SNPs has a single Variation ID (or unique identifier – UID).

How do I download ClinVar?

clinvar VCFs can be downloaded from: ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/ ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/

What is ClinVar ID?

ClinVar assigns a unique integer identifier to each set of variants described in submitted records. The majority of submitted records in ClinVar interpret a single variant, and a Variation ID is assigned even if there is only one variant in the set.

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 submit to ClinVar?

Send your submission Go to the ClinVar Submission Portal. Register your organization first. You will be notified by email when your organization is approved by ClinVar staff. Then you can send submissions to ClinVar in the Submission Portal.

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.

How often is ClinVar updated?

The web site is updated weekly on Mondays. Weekly updates to the data release on the ftp site are provided for users who want to keep data synchronized with the ClinVar website.

What is dbSNP used for?

In this model, dbSNP serves dual roles as both a ‘first point of entry’ into the resource network for query and retrieval of specific variation records, and as an information server for searches that start in other resources such as GenBank, PubMed, LocusLink or the genome sequence databases.

How do you use ClinVar site?

PubMed PMID: 29165669 . If you wish to reference a specific submission, please cite the SCV accession and version. If you wish to reference a specific ClinVar assertion, please cite the RCV accession and version.

What does probable pathogenic mean?

In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity.