ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) (rs761881469)

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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 RCV000298136 SCV000385221 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352987 SCV000385222 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267924 SCV000385223 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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