ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) (rs202023896)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526287 SCV000651670 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000600529 SCV000719566 likely benign not specified 2017-05-24 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.
Ambry Genetics RCV000720397 SCV000851274 likely benign History of neurodevelopmental disorder 2016-10-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173182 SCV001336262 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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