ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.825G>A (p.Val275=)

gnomAD frequency: 0.00001  dbSNP: rs200767468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819448 SCV002067728 uncertain significance not specified 2018-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588771 SCV004353133 benign Kabuki syndrome 2024-12-21 criteria provided, single submitter clinical testing

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