ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10508-11T>G

gnomAD frequency: 0.00003  dbSNP: rs374068805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241798 SCV000309595 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519916 SCV003456210 likely benign Kabuki syndrome 2023-07-13 criteria provided, single submitter clinical testing

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