ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.*190A>G (rs13901)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000341524 SCV000385239 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400096 SCV000385240 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301690 SCV000385241 likely benign Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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