ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile)

gnomAD frequency: 0.00003  dbSNP: rs374530664
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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 RCV001519191 SCV001728018 benign Genitopatellar syndrome 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495824 SCV002806075 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-10-25 criteria provided, single submitter clinical testing

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