portfolio has been applied to many different problems. See what we can deliver for you.

  Gene Variant Description Prediction
HDAC8 p.His201Tyr This report was generated for an academic hospital in the Netherlands. The variant in question does not have any literature available for the exact protein and it is not documented in gnomAD. Using we found literature from homologous proteins that show a high likelihood of pathogenicity, consistent with the prediction.
Read report »
BRCA1 p.Ile1723Val Read report » Benign
BRCA1 p.Tyr1720Ala Read report » Benign
BRCA1 p.Met1775Lys Read report » Pathogenic
ATM p.Met1040Val Read report » Benign
ATM p.Arg2227Cys Read report » Pathogenic
BRAF p.Val600Glu Read report » Pathogenic