ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)

dbSNP: rs1554844486
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626909 SCV000747612 likely pathogenic Epicanthus; Telecanthus; Blepharophimosis; Renal hypoplasia; Abnormal facial shape; Bulbous nose; Vesicoureteral reflux; Hypoplasia of the maxilla; Intellectual disability; Poor speech 2017-01-01 criteria provided, single submitter clinical testing

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