ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9495C>T (p.Gly3165=) (rs763139389)

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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 RCV000719239 SCV000850105 likely benign History of neurodevelopmental disorder 2016-07-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000861663 SCV001002041 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing

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