ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) (rs80096622)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717491 SCV000848343 likely benign History of neurodevelopmental disorder 2016-10-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000711516 SCV000841893 benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503970 SCV000594422 likely benign not specified 2016-01-06 criteria provided, single submitter clinical testing
Invitae RCV000230261 SCV000287103 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-12-22 criteria provided, single submitter clinical testing

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