ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=)

gnomAD frequency: 0.00009  dbSNP: rs201084874
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 RCV001481808 SCV001686158 likely benign Genitopatellar syndrome 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501662 SCV002810850 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-12-22 criteria provided, single submitter clinical testing

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