ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12415C>T (p.Arg4139Ter)

dbSNP: rs2091742405
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251813 SCV001427555 pathogenic Kleefstra syndrome 2 2019-01-01 no assertion criteria provided clinical testing

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