ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter)

dbSNP: rs398123708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790792 SCV000229952 pathogenic not provided 2013-07-30 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000177985 SCV000781646 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000790792 SCV002601466 likely pathogenic not provided 2022-05-10 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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