ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.1447del (p.Glu483fs)

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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 RCV002289458 SCV002581073 likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2022-02-14 criteria provided, single submitter clinical testing

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