ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) (rs138428684)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717972 SCV000848833 likely benign History of neurodevelopmental disorder 2017-05-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000514576 SCV000841898 benign not provided 2017-09-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514576 SCV000610615 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179651 SCV000231933 likely benign not specified 2015-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000179651 SCV000726067 benign not specified 2017-01-24 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.
Genetic Services Laboratory, University of Chicago RCV000179651 SCV000247205 likely benign not specified 2015-04-28 criteria provided, single submitter clinical testing
Invitae RCV000233056 SCV000287104 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-12-20 criteria provided, single submitter clinical testing

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