Genetic Variant Reclassification
Genetic variant reclassification process followed at Pathway Genomics is outlined in the diagram shown below.
- Classification of genetic variants is re-evaluated either every six months after last classification or when new scientific evidence is available, whatever happens first.
- The findings are approved by Pathway Genomics Clinical Review Committee.
- 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.
| 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 |