ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3765_3768TCTA[1] (p.Lys1258fs) (rs199470470)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000023487 SCV000055891 pathologic Genitopatellar syndrome 2012-12-13 no assertion criteria provided curation Converted during submission to Pathogenic.
Lee Lab(KAT6B), Baylor College of Medicine RCV000128645 SCV000172285 not provided not provided no assertion provided not provided
OMIM RCV000023487 SCV000044778 pathogenic Genitopatellar syndrome 2012-02-10 no assertion criteria provided literature only

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