ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13372+4C>T (rs17541657)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715614 SCV000846443 benign History of neurodevelopmental disorder 2016-03-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116911 SCV000150998 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000290562 SCV000385212 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345582 SCV000385213 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381537 SCV000385214 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463851 SCV000559786 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-08-01 criteria provided, single submitter clinical testing

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