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Definition

Variants detected during sequencing, often for the first time, for which there is no or insufficient evidence either for or against pathogenicity. Consequently, the clinical impact is uncertain.

Use in clinical context

Not all variants in the genome are well characterised, often this is because they have only been identified in a limited number of people and sometimes only one. The process to confirm whether a variant is functional can be long, involving a variety of computer and laboratory techniques. Consequently, sometimes variants are reported as of uncertain significance. It is possible that, in time, many of these will be reclassified as more evidence is generated, but at the time of reporting no clinical decisions can be made on the basis of these variants.

Last updated on 31st May, 2019