ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192947 SCV000247212 benign not specified 2015-10-28 criteria provided, single submitter clinical testing
Invitae RCV000711536 SCV000287118 benign not provided 2019-03-05 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
Athena Diagnostics Inc RCV000711536 SCV000841914 benign not provided 2018-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717137 SCV000847983 likely benign History of neurodevelopmental disorder 2016-10-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000192947 SCV001157485 benign not specified 2018-07-16 criteria provided, single submitter clinical testing

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