ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5967C>T (p.Leu1989=)

gnomAD frequency: 0.00006  dbSNP: rs373882553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245596 SCV000311920 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001594909 SCV001829346 likely benign not provided 2020-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058236 SCV002432266 likely benign Genitopatellar syndrome 2025-01-01 criteria provided, single submitter clinical testing

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