ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.622-7G>A

dbSNP: rs751195432
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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 RCV000941596 SCV001087488 likely benign Genitopatellar syndrome 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505397 SCV002811297 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-09-16 criteria provided, single submitter clinical testing

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