ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.2374-10T>C

gnomAD frequency: 0.00034  dbSNP: rs376833457
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697739 SCV000732360 likely benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056133 SCV002489409 likely benign Genitopatellar syndrome 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494944 SCV002803404 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-11-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739673 SCV005345240 likely benign KAT6B-related disorder 2024-06-16 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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