ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) (rs199470482)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000032259 SCV000292228 pathogenic Young Simpson syndrome 2015-03-16 criteria provided, single submitter clinical testing Mutations in the KAT6B gene are well known to be involved in the Ohdo/SBBYS syndrome. Here we report the case of a new-born girl with clinical suspicion of this syndrome and harbouring a pathogenic de novo mutation in this gene
GeneReviews RCV000032259 SCV000055893 pathologic Young Simpson syndrome 2012-12-13 no assertion criteria provided curation Converted during submission to Pathogenic.
Lee Lab(KAT6B), Baylor College of Medicine RCV000128657 SCV000172297 not provided not provided no assertion provided not provided

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