ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2426A>C (p.Gln809Pro)

dbSNP: rs1398110011
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253468 SCV001429183 uncertain significance Kabuki syndrome 1 2017-10-27 criteria provided, single submitter clinical testing

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