ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=) (rs145405293)

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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 RCV000720330 SCV000851207 likely benign History of neurodevelopmental disorder 2016-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000466006 SCV000559812 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-12-04 criteria provided, single submitter clinical testing

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