Helix portfolio

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  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 Helix we found literature from homologous proteins that show a high likelihood of pathogenicity, consistent with the prediction.
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BRCA1 p.Ile1723Val Read report » Benign
BRCA1 p.Thr1720Ala Read report » Benign
BRCA1 p.Met1775Lys Read report » Pathogenic
ATM p.Met1040Val Read report » Benign
BRAF p.Val600Glu Read report » Pathogenic