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TheJacksonLaboratory / LIRICAL

LIkelihood Ratio Interpretation of Clinical AbnormaLities
https://thejacksonlaboratory.github.io/LIRICAL/stable
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no output for variant #555

Closed pnrobinson closed 9 months ago

pnrobinson commented 2 years ago

Possible bug with this variant (no output)

##fileformat=VCFv4.3
##Variant Recoder
#CHROM  POS ID  REF ALT QUAL    FILTER  INFO    FORMAT  MG107646
1   152285076   107646  CACTG   C   30  PASS    .   GT  0|1
ielis commented 9 months ago

The variant is annotated with conflicting pathogenicity interpretation in ClinVar and, therefore, does not qualify as ClinVar pathogenic or deleterious by other means under current rules.

In result, no output is probably the right output.

Pls reopen and comment if you disagree.