ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7182C>A (p.Ser2394Arg)

dbSNP: rs2120531136
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Oslo University Hospital RCV001714248 SCV001943321 uncertain significance Kabuki syndrome 1 2021-06-01 no assertion criteria provided research

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