Genetic Variant Reclassification


Genetic variant reclassification process followed at Pathway Genomics is outlined in the diagram shown below.

  1. Classification of genetic variants is re-evaluated either every six months after last classification or when new scientific evidence is available, whatever happens first.
  2. The findings are approved by Pathway Genomics Clinical Review Committee.
  3. If the variant is reclassified then: (a) a new report is issued for all relevant cases, (b) the treating physician(s) are contacted to discuss the change, and (c) the reclassification is communicated to the community through re-submission to ClinVar and posting on Pathway Genomics website.
Genetic Variant Reclassification Diagram
Genes Variant Original Classification Date of Original Classification New Classification Date of New Classification
PMS2 c.52A>G VUS 4/17/2014 Benign 10/17/2014
BRCA2 c.2138A>T VUS 7/23/2014 Likely Benign 12/10/14
BRCA1 c.2428A>T VUS 7/23/2014 Benign 12/11/14
MUTYH c.1585C>A VUS 7/16/2014 Likely Benign 12/15/2014
APC c.1240C>T VUS 7/31/2014 Likely Benign 1/26/2014

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