ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4776A>G (p.Gln1592=)

gnomAD frequency: 0.00007  dbSNP: rs148492740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586401 SCV001812842 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072310 SCV002418200 likely benign Genitopatellar syndrome 2024-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536213 SCV004712464 likely benign KAT6B-related disorder 2022-10-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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