ClinVar Miner

Submissions for variant NM_005634.2(SOX3):c.157G>C (p.Val53Leu) (rs200361128)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153990 SCV000203615 likely benign not specified 2014-06-29 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454344 SCV000537978 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Ambry Genetics RCV000720991 SCV000851875 benign History of neurodevelopmental disorder 2012-12-03 criteria provided, single submitter clinical testing
Invitae RCV000878811 SCV001021783 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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