ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=)

gnomAD frequency: 0.00007  dbSNP: rs560274634
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002118738 SCV002448582 likely benign Genitopatellar syndrome 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500207 SCV002807916 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-10-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706391 SCV005221246 likely benign not provided criteria provided, single submitter not provided

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