ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=) (rs145707539)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553036 SCV000646433 benign Mental retardation, autosomal dominant 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718836 SCV000849700 likely benign History of neurodevelopmental disorder 2016-03-21 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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