Abstract
The clinical genetics community needs improved standardization of variant classification to facilitate patient care and research. Variant assessment can be time-sensitive; receiving results in an earlier timeframe can often make a notable difference in patient prognosis and care. One necessary component of variant pathogenicity assessment is first determining whether there is a relationship between a gene and a specific disease and, if so, the strength of that relationship. This categorization can help determine whether certain types of evidence can be applied to scoring of variants within the gene and can reduce the number and frequency of variants being classified as “variants of uncertain significance.” It is also important in the design of gene panels and in the decision-making processes concerning variant reporting in tests such as exome or -genome sequencing.
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