ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.2115+13T>A

gnomAD frequency: 0.00001  dbSNP: rs375539342
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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 RCV002196603 SCV002492831 likely benign Genitopatellar syndrome 2022-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486998 SCV002802382 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2022-01-25 criteria provided, single submitter clinical testing

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