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TheJacksonLaboratory / LIRICAL

LIkelihood Ratio Interpretation of Clinical AbnormaLities
https://thejacksonlaboratory.github.io/LIRICAL/stable
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UMOD #413

Closed pnrobinson closed 5 years ago

pnrobinson commented 5 years ago

Calado-2005-UMOD-proband.json HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1 OMIM:162000 ENTREZ:7369 117 117

It appears that the UMOD variant is getting filtering out completely.

pnrobinson commented 5 years ago

This is not a bug, because the mutation gets a pathogenicity score of aboput 0.75 and was correctly filtered out. If we use the keep=true setting, then the correct diagnosis has rank 9. This is as well as we can do given the data, I think.