ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1485A>G (p.Pro495=)

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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 RCV002886092 SCV003245748 benign Genitopatellar syndrome 2024-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545414 SCV004782991 likely benign KAT6B-related disorder 2022-08-26 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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