What makes the clinical standards framework a
robust tool for assessing the pathogenicity of mutations?

Question

Answer

It assesses mutations, based on comparison to other
novel uncharacterised mutations within the gene of interest

Answer

It relies mainly on experimental evidence collected in
a laboratory environment

Answer

It integrates
multiple lines of evidence, including known pathogenic variants and population
frequencies

Answer

It exclusively relies on comparison to known
pathogenic mutations

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