ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3264A>G (p.Glu1088=)

gnomAD frequency: 0.00009  dbSNP: rs551589427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001418351 SCV001620577 likely benign Genitopatellar syndrome 2024-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001546053 SCV001765500 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540291 SCV004772399 benign KAT6B-related disorder 2019-07-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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