ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=)

gnomAD frequency: 0.00007  dbSNP: rs145574734
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002207738 SCV002377499 likely benign Genitopatellar syndrome 2023-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498264 SCV002807731 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-11-30 criteria provided, single submitter clinical testing

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