SACGF / SACGF/variantgrid

Proposal to add 'other variants in codon' field to classification form

Open
#182 2 comments 0 reactions 1 assignee Claimed by @TheMadBug View on GitHub
enhancement Evidence Key SA Pathology
Dominant language
Python
Stars
30
Forks
3
Avg merge
9h 28m
Merged PRs (30d)
42

Description

**Issue**
When applying PM5 & PS1 need to assess other variants reported in the codon & their clinical significance. Often this data is saved in the notes fields. Can be confusing when assessing this data as often requires reading multiple papers, classify the other variants and then return to classifications and make sure that you're not applying circular logic. Would be helpful to have a dedicated field to collect this information, which will also help clear up some text on the classification reports.

**Describe the solution you'd like**
Not sure how be to do this. Need both variant info & clin sig.

Details would be something like:
p.R175Y (CAR123456) LP: p.R175W (CAR123457) VUS; c.134 C>T (CAR123458) LP

**Describe alternatives you've considered**
Continue recording data in the notes field.

**Additional context**
Note that this data is now automatically available based on the nearby variants calcs.

@EmmaTudini @TheMadBug Thoughts?

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