ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs) (rs2077066093)

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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 Leipzig Medical Center RCV001253660 SCV001429496 pathogenic Koolen-de Vries syndrome 2018-02-26 criteria provided, single submitter clinical testing

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