ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1539C>T (p.Ala513=)

gnomAD frequency: 0.00002  dbSNP: rs774605212
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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 RCV002186294 SCV002480976 likely benign Genitopatellar syndrome 2023-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496118 SCV002804196 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2022-04-22 criteria provided, single submitter clinical testing

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