ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) (rs387906738)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091151 SCV001247023 pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000022929 SCV001440993 pathogenic Charcot-Marie-Tooth disease, axonal, type 2O 2019-01-01 criteria provided, single submitter clinical testing
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001091151 SCV001450155 likely pathogenic not provided 2015-10-29 criteria provided, single submitter clinical testing
OMIM RCV000022929 SCV000044220 pathogenic Charcot-Marie-Tooth disease, axonal, type 2O 2012-11-01 no assertion criteria provided literature only
OMIM RCV000055662 SCV000083887 pathogenic Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 2012-11-01 no assertion criteria provided literature only
GeneReviews RCV000192255 SCV000239903 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000192255 SCV000929118 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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