ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) (rs36021462)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000439917 SCV000110592 uncertain significance not provided 2014-09-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194324 SCV000247785 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000194324 SCV000304108 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000439917 SCV000511247 benign not provided 2016-09-14 criteria provided, single submitter clinical testing
Invitae RCV001083170 SCV000629391 benign Spastic paraplegia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717826 SCV000848686 benign History of neurodevelopmental disorder 2017-01-09 criteria provided, single submitter clinical testing

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