ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) (rs397509412)

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Total submissions: 3
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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 RCV001255327 SCV001431713 pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.10031G>A, p.(Arg3344Gln) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Pathogenic according to ACMG guidelines. Inheritance for this variant was not maternal.The variant likely explains the NDD in this individual.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262933 SCV001440990 pathogenic Charcot-Marie-Tooth disease, axonal, type 2O 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000049272 SCV000077529 pathogenic Mental retardation, autosomal dominant 13 2013-06-01 no assertion criteria provided literature only

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