Identify major evidence categories used in variant interpretation.
Sort each evidence signal into the category a variant curator would recognize. Population frequency Computational prediction Functional evidence Family/segregation Phenotype fit Variant appears too often for a severe childhood-onset rare disease No homozygotes are observed in a large reference population for a recessive lethal condition Multiple calibrated tools predict a damaging missense effect Splice predictor suggests the change may disrupt the donor site A validated assay shows loss of protein function matching the disease mechanism RNA study shows exon skipping caused by the variant The variant tracks with disease in multiple affected relatives The variant is confirmed de novo with…
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