ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys)

gnomAD frequency: 0.00004  dbSNP: rs747722455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659733 SCV000781581 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816661 SCV002071382 uncertain significance not specified 2021-03-01 criteria provided, single submitter clinical testing

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