ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.717T>C (p.Asp239=)

gnomAD frequency: 0.00001  dbSNP: rs1416245734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548311 SCV001768198 likely benign not provided 2019-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072019 SCV002470084 likely benign Genitopatellar syndrome 2025-01-20 criteria provided, single submitter clinical testing

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