ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)

gnomAD frequency: 0.00180  dbSNP: rs140678848
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173128 SCV000224216 likely benign not specified 2014-11-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173128 SCV000247790 likely benign not specified 2015-06-23 criteria provided, single submitter clinical testing
Invitae RCV000206868 SCV000259220 benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312701 SCV000846379 likely benign Inborn genetic diseases 2016-05-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847800 SCV002105413 likely benign Hereditary spastic paraplegia 2017-10-02 criteria provided, single submitter clinical testing

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