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Clinical-Genomics / scout

VCF visualization interface
https://clinical-genomics.github.io/scout
BSD 3-Clause "New" or "Revised" License
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ACMG classification criteria PS4 #3805

Closed KickiLagerstedt closed 1 year ago

KickiLagerstedt commented 1 year ago

https://www.medcalc.org/calc/odds_ratio.php

Kanske även lägga till texten; "PS4 can be used as a moderate level of evidence if the variant has been previously identified in multiple (two or more) unrelated affected individuals, or as a supporting level of evidence if previously identified in one unrelated affected individual, and has not been reported in gnomAD."

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dnil commented 1 year ago

Not happy about the double use of gnomAD though - it would likely be in use in PM2?

KickiLagerstedt commented 1 year ago

We are having the same discussion - but it seems You can use them both - moderate x2......

dnil commented 1 year ago

Ok, right! Reading again, and I guess for the downgraded level it will good enough. Its all a matter of likelihood...