ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)

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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 Goettingen RCV003225716 SCV003921124 likely pathogenic Intellectual disability, autosomal recessive 65 2023-05-03 criteria provided, single submitter clinical testing

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