ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) (rs116089522)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000500200 SCV000594414 likely benign not specified 2015-10-20 criteria provided, single submitter clinical testing
Invitae RCV000537148 SCV000651645 benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000500200 SCV000722740 likely benign not specified 2017-09-12 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172864 SCV001335937 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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