ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9780C>T (p.Ile3260=) (rs1486174617)

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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 RCV000718209 SCV000849071 likely benign History of neurodevelopmental disorder 2017-02-23 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000929520 SCV001075153 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing

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