ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3802G>T (p.Gly1268Ter) (rs199470473)

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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 RCV000128648 SCV000172288 not provided not provided no assertion provided not provided
OMIM RCV000023490 SCV000044781 pathogenic Genitopatellar syndrome 2012-02-10 no assertion criteria provided literature only

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