ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3892G>T (p.Gly1298Ter)

dbSNP: rs199470475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023489 SCV000044780 pathogenic Genitopatellar syndrome 2012-02-10 no assertion criteria provided literature only
Lee Lab(KAT6B), Baylor College of Medicine RCV000128650 SCV000172290 not provided not provided no assertion provided not provided

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