ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) (rs375587730)

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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 RCV000193648 SCV000249098 uncertain significance not specified 2015-03-23 criteria provided, single submitter clinical testing
Invitae RCV000475836 SCV000562713 likely benign Mental retardation, autosomal dominant 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718333 SCV000849195 likely benign History of neurodevelopmental disorder 2017-03-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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