ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13372+9G>A (rs1004903)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711524 SCV000841902 benign not provided 2017-11-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116912 SCV000150999 benign not specified 2013-04-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295929 SCV000385215 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350794 SCV000385216 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398631 SCV000385217 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000116912 SCV000539045 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
PreventionGenetics RCV000116912 SCV000307846 benign not specified criteria provided, single submitter clinical testing

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