ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly)

gnomAD frequency: 0.00001  dbSNP: rs900174205
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988053 SCV001137613 likely benign Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV002462244 SCV002757088 uncertain significance not provided 2022-05-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002462244 SCV002953504 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing

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