ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1940del (p.Pro647fs)

dbSNP: rs770315135
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Total submissions: 4
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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 RCV000659698 SCV000781545 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728366 SCV000855925 pathogenic not provided 2017-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000728366 SCV002061089 pathogenic not provided 2023-10-03 criteria provided, single submitter clinical testing Frameshift 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36253360, 35904121)
Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg RCV001809735 SCV002058109 likely pathogenic Lung cancer no assertion criteria provided research

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