ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.2597_2598del (p.Ser866fs)

dbSNP: rs2148050812
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV002245292 SCV002515341 pathogenic Kabuki syndrome 2 2022-02-01 criteria provided, single submitter clinical testing

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