ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11515dup (p.Gln3839fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003314893 SCV004014288 pathogenic not provided 2023-01-11 criteria provided, single submitter clinical testing Reported in a patient in published literature with suspected Kabuki syndrome (Banka et al., 2012); 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22126750)

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