ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3773_3776dup (p.Tyr1260fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003224997 SCV003921073 pathogenic Kabuki syndrome 2 2023-03-01 criteria provided, single submitter clinical testing This variant was identified as de novo in a mosaic constellation (56% in blood). Criteria applied: PVS1, PS2_MOD, PM2_SUP

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