ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter)

dbSNP: rs1555186527
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Total submissions: 3
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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 RCV000659813 SCV000781672 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268133 SCV001446811 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Autoinflammatory diseases unit, CHU de Montpellier RCV000659813 SCV001438140 pathogenic Kabuki syndrome 1 2013-10-01 no assertion criteria provided clinical testing

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