ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.282G>A (p.Gly94=)

gnomAD frequency: 0.00001  dbSNP: rs569038847
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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 RCV001465757 SCV001669750 likely benign Genitopatellar syndrome 2023-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488267 SCV002797911 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-08-16 criteria provided, single submitter clinical testing

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