ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) (rs150888094)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194048 SCV000247216 likely benign not specified 2015-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194048 SCV000336804 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296295 SCV000385089 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351157 SCV000385090 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398425 SCV000385091 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000194048 SCV000521813 likely benign not specified 2017-12-20 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 RCV000711540 SCV000771473 benign not provided 2018-12-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711540 SCV000841918 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720637 SCV000851516 uncertain significance History of neurodevelopmental disorder 2017-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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