Classification rationale
1
A specific SF3B1 sequence change was not resolved, so this case could not be linked to variant-specific somatic observations or germline disease database entries.
2
Population evidence could not be assessed because no genomic coordinates or allele frequency data were available for comparison with ACMG/AMP frequency thresholds.
3
No variant-specific functional studies were identified, and generic PVS1 could not be applied because both the exact variant consequence and gene-level loss-of-function eligibility remained unresolved.
pvs1_generic_framework ↗4
In silico evidence could not be assessed because no resolvable variant was available for SpliceAI, REVEL, BayesDel, or same-residue PM5 comparison.