ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) (rs199679500)

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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 RCV000192449 SCV000247200 benign not specified 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV000558470 SCV000651595 benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000192449 SCV000725899 likely benign not specified 2017-12-26 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.
Ambry Genetics RCV000717030 SCV000847875 likely benign History of neurodevelopmental disorder 2016-09-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173876 SCV001336992 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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