ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) (rs141696238)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000319778 SCV000385164 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367593 SCV000385165 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275362 SCV000385166 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000420175 SCV000512905 benign not specified 2015-04-28 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 RCV000475565 SCV000559785 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000420175 SCV000594427 likely benign not specified 2017-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716758 SCV000847601 benign History of neurodevelopmental disorder 2016-08-19 criteria provided, single submitter clinical testing

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