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

gnomAD frequency: 0.00180  dbSNP: rs140678848

Total submissions: 5

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
Labcorp Genetics (formerly Invitae), Labcorp	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: seen in unaffected individuals, 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