ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) (rs149893977)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192820 SCV000247587 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718179 SCV000849041 likely benign History of neurodevelopmental disorder 2016-06-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000973168 SCV001120908 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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