ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.409G>T (p.Gly137Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290181 SCV002579309 likely pathogenic Kabuki syndrome 2 2021-07-05 criteria provided, single submitter clinical testing

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