ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2719-6C>T (rs199763298)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192880 SCV000247209 likely benign not specified 2015-06-23 criteria provided, single submitter clinical testing
Invitae RCV000230438 SCV000287112 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-12-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267110 SCV000385020 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317558 SCV000385021 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372162 SCV000385022 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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