ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) (rs34690489)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716002 SCV000846835 benign History of neurodevelopmental disorder 2016-04-11 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 RCV000116916 SCV000151003 benign not specified 2013-05-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309091 SCV000385032 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340547 SCV000385033 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404178 SCV000385034 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232049 SCV000287115 benign Charcot-Marie-Tooth disease, axonal, type 2O 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116916 SCV000307850 benign not specified criteria provided, single submitter clinical testing

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