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broadinstitute / genetic-prevalence-estimator

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ClinVar variant included in dashboard list despite failing gnomAD QC #271

Closed rileyhgrant closed 3 months ago

rileyhgrant commented 4 months ago

From Moriel:

...noticed that this variant is in clinvar is LP and in the preliminary estimate on the dashboard (https://genie.broadinstitute.org/dashboard/ENSG00000117593), but it does not pass QC in gnomad (https://gnomad.broadinstitute.org/variant/1-173826686-G-T?dataset=gnomad_r4).

Variants that did not pass QC filters in gnomAD should not be included in lists.