ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala)

gnomAD frequency: 0.00001  dbSNP: rs373962168
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732503 SCV001982652 benign not provided 2021-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073969 SCV002450446 benign Genitopatellar syndrome 2025-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536273 SCV004752896 likely benign KAT6B-related disorder 2020-03-03 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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