ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3906del (p.Ser1303fs)

dbSNP: rs2134234910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227960 SCV003924568 pathogenic not provided 2022-11-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 771 amino acids are replaced with 30 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Institute of Medical Genetics, Medical University of Vienna RCV001645000 SCV001519065 likely pathogenic Genitopatellar syndrome 2021-03-10 no assertion criteria provided clinical testing

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