ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.510G>A (p.Pro170=)

gnomAD frequency: 0.00002  dbSNP: rs750020725
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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 RCV002181256 SCV002479399 benign Genitopatellar syndrome 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500387 SCV002805679 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-10-20 criteria provided, single submitter clinical testing

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