Disease related


The platform integrated the ClinVar and NHGRI-EBI GWAS databases on the analysis results of DISEASE-RELATED page including three figures and one variants table. You can refer to the example figures below and visit Detailed info of variant for learning more about the variant table. 

 

1. Incidental report findings - ACMG

The variants asserted to be Pathogenic by at least one submitter interpreting as likely pathogenic/pathogenic to ClinVar in the exons of certain genes which have published recommendations about reporting incidental findings with disorders by ACMG (American College of Medical Genetics and Genomics) guideline 2016. Not Pathogenic means no current value of likely pathogenic/pathogenic.

The results should not be interpreted as a statement that these alleles are universally accepted to be pathogenic or likely pathogenic.

 

2. Clinical Significance - ClinVar

ClinVar uses standard terms for each variant of clinical significance recommended by an authoritative source or individual submission. The clinical significance terms are from NCBI ClinVar ASN.1 file including: uncertain significance, not provided, benign, likely benign, likely pathogenic, pathogenic, drug response, histocompatibility, and other. 

 

3. Allele Origin - ClinVar

The reported origin of the variation. Allele origin may be divided in twelve types including unknown, germline, somatic, inherited, paternal, maternal, de-novo, biparental, uniparental, not-tested, tested-inconclusive, and other.