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-  2019 

Variant classification changes over time in BRCA1 and BRCA2

DOI: https://doi.org/10.1038/s41436-019-0493-2

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Abstract:

To report BRCA1 and BRCA2 (BRCA1/2) variant reassessments and reclassifications between 2012 and 2017 at the Advanced Molecular Diagnostics Laboratory (AMDL) in Toronto, Canada, which provides BRCA1/2 testing for patients in Ontario, and to compare AMDL variant classifications with submissions in ClinVar

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