Case-Level Outcomes — does the genotype explain the phenotype?

All 11 curated ClinicalCase fixtures: whether a patient's genotype, evaluated under the correct inheritance logic for their gene, is judged to explain their diagnosis. Click a column header to sort.

Case Gene Inheritance Phase / configuration Result Why
The key divergence in this table: CASE_CAPN3_BIALLELIC_CIS (autosomal recessive, cis) resolves to INSUFFICIENT — a genuinely wild-type second autosomal copy is always active, so it's real, confident evidence the recessive mechanism doesn't apply. CASE_DMD_XX_BIALLELIC_CIS (X-linked, cis) resolves instead to MANUAL_REVIEW — the equivalent wild-type X copy isn't guaranteed to be transcriptionally active in every cell, so X-inactivation mosaicism keeps that case genuinely uncertain rather than confidently excluded. Same phase relationship, deliberately different answer, because the underlying chromosome biology is different.