ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.2231+9A>G

gnomAD frequency: 0.00101  dbSNP: rs201260397
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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 RCV001513873 SCV001721569 benign Genitopatellar syndrome 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001638103 SCV001851816 benign not provided 2020-04-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533929 SCV004731566 likely benign KAT6B-related disorder 2019-05-03 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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