ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) (rs199470476)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lee Lab(KAT6B), Baylor College of Medicine RCV000128651 SCV000172291 not provided not provided no assertion provided not provided
OMIM RCV000023485 SCV000044776 pathogenic Young Simpson syndrome 2011-11-11 no assertion criteria provided literature only

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