ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del)

dbSNP: rs71929101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047089 SCV001211024 likely benign Genitopatellar syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001692347 SCV001907597 benign not provided 2019-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505584 SCV002810805 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-11-23 criteria provided, single submitter clinical testing

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