ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=) (rs773232010)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539105 SCV000651611 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718770 SCV000849634 likely benign History of neurodevelopmental disorder 2017-05-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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