ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2515G>T (p.Glu839Ter)

dbSNP: rs781145102
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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 Goettingen RCV000684769 SCV000746243 likely pathogenic Kabuki syndrome 1 2018-04-19 no assertion criteria provided clinical testing

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