ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002598004 SCV002954584 likely benign not provided 2023-07-22 criteria provided, single submitter clinical testing
GeneDx RCV002598004 SCV004024048 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: Kurkowiak2017[Other])

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