ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) (rs149395439)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717137 SCV000847983 likely benign History of neurodevelopmental disorder 2016-10-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000711536 SCV000841914 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192947 SCV000247212 benign not specified 2015-10-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370038 SCV000385059 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270738 SCV000385060 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325907 SCV000385061 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232503 SCV000287118 benign Charcot-Marie-Tooth disease, axonal, type 2O 2018-01-03 criteria provided, single submitter clinical testing

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