ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.5267G>A (p.Arg1756Gln) (rs908795312)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768005 SCV000898784 uncertain significance Kabuki syndrome 1 2018-10-29 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 22 p.Arg1756Gln (c.5267G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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