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ACMG criteria modulation to very strong missing #5100

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4WGH opened this issue Dec 4, 2024 · 2 comments
Open

ACMG criteria modulation to very strong missing #5100

4WGH opened this issue Dec 4, 2024 · 2 comments

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@4WGH
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4WGH commented Dec 4, 2024

Criteria can be upgraded in the strength, even up to "very strong", this is not possible at the moment :)

Just nociced now when I wanted to upgra PS2 to PS2_very strong

@4WGH
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4WGH commented Dec 4, 2024

another update

if PS2/PM6 is used, including phenotype specificity and consistency then PP4 should not be applied.

@dnil
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dnil commented Dec 5, 2024

Hehe, ok, I’ve never had to do that, but I guess that says more about how often I classify variants. It is a tad more complicated as it is asymmetric between the benign and pathogenic side, but we’ll fix. The usual about commenting instead of course applies in the meantime. Thank you!

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