ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=) (rs776275624)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554431 SCV000651635 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720322 SCV000851199 likely benign History of neurodevelopmental disorder 2016-09-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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