PVS1
Not assessed: insufficient evidence was available to evaluate whether this splice variant causes loss of function.
PS2
Not assessed: no proband or parental-testing data were available to confirm or exclude a de novo origin.
PS3
Not assessed: no functional assay evidence was available; the only relevant datum was an in silico splice prediction, not a functional assay.
PS4
Not assessed: no case-control or cohort data reported this variant — it is absent from ClinVar, gnomAD, and the literature.
PM3
Not assessed: no proband, second-allele, or phase data were available to test for a pathogenic trans counterpart.
PM6
Not assessed: no proband or parental testing data were available to evaluate an assumed de novo occurrence.
PP1
Not assessed: no pedigree or family segregation data were available.
PP3
Not met: SpliceAI max delta 0.99 predicts near-certain splice impact, but this same prediction is counted under PVS1 and cannot be double-counted as PP3.
PP4
Not assessed: no proband phenotype or family history data were available to assess phenotype specificity.
PP5
Not met: ClinVar has no record for this variant, so no expert-panel Pathogenic or Likely pathogenic classification exists to support PP5.
