ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000023487 SCV001138090 pathogenic Genitopatellar syndrome 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000023487 SCV000044778 pathogenic Genitopatellar syndrome 2012-02-10 no assertion criteria provided literature only
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

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