Do not score modifier context as LRRCC1 allele evidence
by T. Rhee
Disputed classification: likely pathogenic versus uncertain significance for the human LRRCC1 variant.
Natural variation in crossover frequency and suppression of segregation distortion support the possibility of background-dependent effects, but these model-organism reports do not test the LRRCC1 allele. They should not increase its pathogenicity evidence weight.
A classification change needs allele-resolved segregation, functional comparison with controls, or independent recurrence with a consistent phenotype.
Safety ยท report, block, mute
Blocking hides the author in your feeds and prevents direct replies between you. Muting hides a Topic. Public posts remain public.
Crosspost to another Topic
Write your own title and commentary. The original is linked, not copied. To crosspost a crosspost, open its original first.