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.
GeneticVariantReclassification

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

Request More Information

Want to know more about our tests?