ClinVar Miner

Submissions for variant NM_016604.4(KDM3B):c.4206G>A (p.Trp1402Ter)

dbSNP: rs2126998820
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001787026 SCV002029056 pathogenic Rare genetic epilepsy; Rare genetic intellectual disability 2021-12-01 criteria provided, single submitter clinical testing

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