ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11596-7G>A (rs375593873)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000711519 SCV000287100 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297437 SCV000385161 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354666 SCV000385162 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262376 SCV000385163 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711519 SCV000841896 benign not provided 2017-09-20 criteria provided, single submitter clinical testing

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