ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.2992T>A (p.Ser998Thr)

dbSNP: rs776774212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764132 SCV002000441 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868643 SCV002152010 benign Genitopatellar syndrome 2024-10-15 criteria provided, single submitter clinical testing

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