ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1994-20C>T

gnomAD frequency: 0.00014  dbSNP: rs373239366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001583055 SCV001813489 likely benign not provided 2020-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072303 SCV002324957 likely benign Genitopatellar syndrome 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501939 SCV002811962 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-10-02 criteria provided, single submitter clinical testing

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