ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6962T>G (p.Leu2321Ter)

dbSNP: rs1943478443
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Autoinflammatory diseases unit, CHU de Montpellier RCV001261268 SCV001438181 pathogenic Kabuki syndrome 1 2014-05-23 no assertion criteria provided clinical testing

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