ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp)

gnomAD frequency: 0.00001  dbSNP: rs754797404
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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 RCV000659712 SCV000781559 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002532008 SCV003501633 likely benign Kabuki syndrome 2023-02-08 criteria provided, single submitter clinical testing

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