ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter)

dbSNP: rs1562928193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001420166 SCV001622587 pathogenic O'Donnell-Luria-Rodan syndrome 2021-04-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, Cologne University RCV000735811 SCV000863544 likely pathogenic Intellectual disability no assertion criteria provided clinical testing

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