ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=)

gnomAD frequency: 0.00010  dbSNP: rs751986009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539090 SCV001756829 benign not provided 2019-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071945 SCV002395824 likely benign Genitopatellar syndrome 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488359 SCV002803597 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-07-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536166 SCV004726263 likely benign KAT6B-related disorder 2019-06-12 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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