Fig. 4
From: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
ClinVar Miner was used to pull all variants submitted with assertion criteria to ClinVar with the collection method “clinical testing.” If genes had a higher classification in addition to a Limited, Disputed, or Refuted classification, only submissions linked to the Limited, Disputed, or Refuted disease entity were counted. Limited (N = 25), Refuted (N = 3), Disputed (N = 10) gene–disease pairs.
