ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) (rs117846737)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724343 SCV000230578 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000178489 SCV000717380 likely benign not specified 2017-03-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000337451 SCV000385116 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392500 SCV000385117 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311718 SCV000385118 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000649640 SCV000771469 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-12-21 criteria provided, single submitter clinical testing

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