ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) (rs17540624)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473319 SCV000559799 benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501948 SCV000594409 likely benign not specified 2015-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000501948 SCV000714002 benign not specified 2017-12-11 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 RCV000717838 SCV000848698 likely benign History of neurodevelopmental disorder 2017-01-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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