ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter)

dbSNP: rs1555188080
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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 RCV000659798 SCV000781652 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV000659798 SCV001573035 pathogenic Kabuki syndrome 1 2020-08-13 criteria provided, single submitter clinical testing
Autoinflammatory diseases unit, CHU de Montpellier RCV000659798 SCV001438124 pathogenic Kabuki syndrome 1 2013-10-01 no assertion criteria provided clinical testing

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