Variant Updates:

• Updated missing variant effect, frameshift, and splicing fields for some variants.
• Corrected an UTR variant from Intronic.
• Updated variant interpretations when available; Added fields to store previous interpretations and date the interpretation was changed.
• Added missed thermolabile variants (NM_000098.3:c.1055T>G, NM_000098.3:c.1939A>G, NM_000098.3:c.1102G>A, NM_000098.3:p.Met647Val) for 100 occurrences.
• Corrected some genomic coordinate nomenclature to remove “g.”

Data Source Updates:

• Added aggregate data from 790 patients from the literature (March 2025), clinical testing programs (July 2025), and clinical studies (January 2025).