ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.292C>T (p.Arg98Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003456687 SCV004184002 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing KDM5B: PM5, PP3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992772 SCV004810304 uncertain significance Intellectual disability, autosomal recessive 65 2024-04-04 criteria provided, single submitter clinical testing

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