ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=)

gnomAD frequency: 0.00001  dbSNP: rs767983250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707828 SCV000726499 likely benign not provided 2021-03-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498956 SCV002812973 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2022-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531619 SCV003243045 likely benign Genitopatellar syndrome 2023-08-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533234 SCV004733789 likely benign KAT6B-related disorder 2019-05-30 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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