Closed pnrobinson closed 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.
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.