ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1584G>A (p.Val528=)

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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 RCV002611144 SCV003500716 likely benign Genitopatellar syndrome 2022-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538810 SCV004738345 likely benign KAT6B-related disorder 2019-09-10 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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