ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3761A>C (p.Glu1254Ala)

dbSNP: rs1937821838
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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 RCV001252037 SCV001427785 likely pathogenic Kabuki syndrome 1 2019-01-01 no assertion criteria provided clinical testing

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