ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7417C>T (p.Gln2473Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795614 SCV005417059 pathogenic Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS2_Supporting

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