ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) (rs199470484)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000043512 SCV000067382 pathogenic Young Simpson syndrome 2013-04-01 no assertion criteria provided literature only
Lee Lab(KAT6B), Baylor College of Medicine RCV000128660 SCV000172300 not provided not provided no assertion provided not provided

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