HGVS Sanitisation: Delins variants written with explicit deleted bases, such as delGGTGGinsTGTGC, are now normalised to canonical HGVS before submission. The deleted bases are checked against the reference first, and variants where the deleted sequence length does not match the coordinates are flagged for review instead of being auto-corrected.
- Applied Criteria, rebuilt: The panel now starts with the codes that fired, shown as full cards with the finding, strength pips, a legend, and linked evidence. Assessed but unmet codes are shown in a ruled pathogenic and benign grid, so reviewers can quickly see why each code did or did not apply without opening extra sections. The layout works the same across Tavtigian points and categorical ACMG combining.
- Faster ClinVar lookups: Variants are now matched directly to their exact ClinVar record when possible, with gene-level search as a fallback and the older search method used only as a last resort. This removes the search then verify step that could occasionally lead to the wrong match. Classification, review status, and star rating now come directly from the matched record, with page details and screenshots used as secondary confirmation.
- Pipeline Analytics: A new Stats page tracks run volume, success rate, median turnaround, and daily submission trends with a fitted growth line. It also includes a launch-date-normalised comparison of HERA and V2, looking at throughput per active day, early adoption, and per-gene classification breakdowns with a counts and share toggle.