ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6467T>G (p.Leu2156Arg)

dbSNP: rs2048250430
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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 RCV001253729 SCV001429583 uncertain significance Intellectual disability, autosomal dominant 13 2018-05-25 criteria provided, single submitter clinical testing

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