ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.2994del (p.Pro998_Met999insTer) (rs1057519595)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000417094 SCV000494651 pathogenic Kabuki syndrome 1 2015-11-19 criteria provided, single submitter clinical testing Patient with symptoms consistent with the Kabuki syndrome. Loss of function mutations in KMT2D (MLL2) are known to cause Kabuki syndrome and here we report a mutation causing a truncated and non-functional MLL2 protein.

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