PMC:6174355 / 9425-10173 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6174355","sourcedb":"PMC","sourceid":"6174355","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6174355","text":"If no population-based MAF meets or exceeds the defined cutoff, the pipeline uses variant classification data from ClinVar and HGMD (Figures 1C and 1D). ClinVar provides user-submitted data, and a single variant can have multiple and conflicting classifications with varying degree of supporting evidence. In such cases, we select the most deleterious ClinVar classification as it carries the highest clinical significance for individuals with hearing loss. When ClinVar and HGMD classifications are concordant, the DVD uses that classification. For ClinVar-HGMD discrepancies, the DVD default classification is based on the level of discordance (Figure 1D). If the variant is reported in only one database, that classification is used for the DVD.","tracks":[]}