ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=) (rs200197781)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649628 SCV000771457 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720103 SCV000850979 likely benign History of neurodevelopmental disorder 2016-04-15 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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