ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6846C>T (p.His2282=) (rs770017263)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718402 SCV000849265 likely benign History of neurodevelopmental disorder 2017-04-19 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000867419 SCV001008640 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing

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