ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) (rs141133453)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724397 SCV000231397 uncertain significance not provided 2014-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000179190 SCV000715871 likely benign not specified 2017-09-07 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.
Invitae RCV001086358 SCV000771433 benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717931 SCV000848792 likely benign History of neurodevelopmental disorder 2017-01-19 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000724397 SCV001143802 benign not provided 2018-11-07 criteria provided, single submitter clinical testing

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