ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=)

dbSNP: rs147746065
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243332 SCV000311911 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001697601 SCV000716100 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001476390 SCV001680598 likely benign Genitopatellar syndrome 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487133 SCV002803306 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-10-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697601 SCV004699684 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KAT6B: BP4, BP7

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