ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)

dbSNP: rs267607237
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723481 SCV000230781 pathogenic not provided 2014-08-18 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000007972 SCV000781686 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001043636 SCV001207392 pathogenic Kabuki syndrome 2021-08-27 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000007972 SCV004171249 pathogenic Kabuki syndrome 1 2023-11-30 criteria provided, single submitter clinical testing
OMIM RCV000007972 SCV000028177 pathogenic Kabuki syndrome 1 2010-09-01 no assertion criteria provided literature only
Autoinflammatory diseases unit, CHU de Montpellier RCV000007972 SCV001438151 pathogenic Kabuki syndrome 1 2015-05-27 no assertion criteria provided clinical testing

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