ClinVar Miner

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

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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 Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Invitae RCV000867419 SCV001008640 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing

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