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PEX6 managed 3'-variant not shown
Hi! I noticed that in our case 23289, the 3'UTR polymorphism c.*442_445delTAAA is visible in Scout, but not shown on the front page, although we have the variant saved as a managed variant. This is quite alarming, since we may have been dismissing PEX6 heterozygous variants based on the presumed absence of the polymorphism, when it was in fact not flagged. Can we find out why this is happening (differing nomenclature, wrong annotation in managed variant, ...)? Thanks in advance! Malin