ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) (rs146782397)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192521 SCV000247783 likely benign not specified 2015-05-04 criteria provided, single submitter clinical testing
Invitae RCV000231132 SCV000284828 benign Spastic paraplegia 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192521 SCV000339799 benign not specified 2016-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719840 SCV000850711 benign History of neurodevelopmental disorder 2017-05-28 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Synonymous alterations with insufficient evidence to classify as benign

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