ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) (rs17512054)

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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 RCV000716105 SCV000846939 benign History of neurodevelopmental disorder 2016-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000116904 SCV000150991 benign not specified 2013-05-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392816 SCV000385011 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314229 SCV000385012 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364130 SCV000385013 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228798 SCV000287111 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-08-04 criteria provided, single submitter clinical testing

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