Notes on pipelines, tooling, and genomics.
ClinVar's October snapshot shows GLA leading all genes in classification changes, including a cluster of Likely Pathogenic to Uncertain Significance downgrades worth a closer look.
Variant classifications aren't static. A variant reported as a Variant of Uncertain Significance today might be reclassified as Likely Pathogenic a year from now, or the reverse. For labs and researchers working the ACMG SF v3.3 secondary-findings panel, knowing when and how often that happens matters. ClinVar itself only shows a variant's current status; there's no built-in way to see its history.
Filtering large cohort VCFs sounds like a boring problem until you're staring at a job that's been running for twenty minutes on a file that shouldn't take that long.