ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) (rs529010293)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000376780 SCV000385188 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265959 SCV000385189 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323451 SCV000385190 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500432 SCV000594454 uncertain significance not specified 2015-11-17 criteria provided, single submitter clinical testing
Invitae RCV000871176 SCV001012784 benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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