gf-dcc / data-model

Gray Foundation data model
https://gf-dcc.github.io/data-model/
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Add separate fields for 'BRCA1 Mutation Pathogenicity' & 'BRCA2 Mutation Pathogenicity' #9

Closed anngvu closed 7 months ago

anngvu commented 2 years ago

Note that a generic 'Pathogenicity' property is part of the current HTAN model, with values: "Benign, Likely Benign, Likely Pathogenic, Pathogenic, Uncertain Significance"

Original comment:

suggest two germline variables, one for BRCA1 and one for BRCA2; values: pathogenic, likely pathogenic, VUS, negative

Update @cconrad8: To keep it short, this became "classBRCA1" etc.

cconrad8 commented 8 months ago

Ok thanks - I don't see this on the RFC -

where does this comment originate from? "suggest two germline variables, one for BRCA1 and one for BRCA2; values: pathogenic, likely pathogenic, VUS, negative"

I think we might want to revisit this term, the word "class" is confusing to me?

cconrad8 commented 8 months ago

image I found it - but let me look at what the term that is submitted from the clinical data we have recieved is.

anngvu commented 7 months ago

@cconrad8 Would you be able to improve the definition to something better + define the enum this sprint?

If not, you can reassign to me.