ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr)

dbSNP: rs1555409418
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679969 SCV000807403 uncertain significance Intellectual disability, autosomal dominant 13 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 6-year-old male with global delays, neuronal migrational disorder, bilateral club feet, hip dysplasia
Inherited Neuropathy Consortium RCV000789739 SCV000929116 uncertain significance Neuronopathy, distal hereditary motor, autosomal dominant no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291065 SCV001479428 uncertain significance Lissencephaly no assertion criteria provided research
Genomics England Pilot Project, Genomics England RCV001542481 SCV001760326 likely pathogenic Charcot-Marie-Tooth disease axonal type 2O no assertion criteria provided clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami RCV001542481 SCV004174356 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2016-01-06 no assertion criteria provided literature only

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