ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) (rs17512460)

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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 RCV000716092 SCV000846925 benign History of neurodevelopmental disorder 2016-03-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116923 SCV000151010 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 RCV000326988 SCV000385107 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383855 SCV000385108 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291943 SCV000385109 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000458339 SCV000559771 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-12-06 criteria provided, single submitter clinical testing

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