ClinVar Miner

Submissions for variant NM_181332.3(NLGN4X):c.1133A>G (p.Lys378Arg) (rs144093574)

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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 RCV000715532 SCV000846361 likely benign History of neurodevelopmental disorder 2016-10-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification;Does not segregate with disease in family study (genes with incomplete penetrance);Other strong data;Does not segregate in family study
Invitae RCV000880183 SCV001023261 benign not provided 2017-09-28 criteria provided, single submitter clinical testing

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