ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15545dup (p.Leu5183fs)

dbSNP: rs1942591784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796394 SCV005417895 pathogenic Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome criteria provided, single submitter clinical testing PM2_Supporting+PS2_Supporting+PVS1+PS4_Supporting
Autoinflammatory diseases unit, CHU de Montpellier RCV001261318 SCV001438202 pathogenic Kabuki syndrome 1 2018-07-03 no assertion criteria provided clinical testing

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