ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.453_454del (p.Trp152fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002814365 SCV003035464 pathogenic Intellectual disability, autosomal recessive 65 2022-08-02 criteria provided, single submitter clinical testing

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