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

gnomAD frequency: 0.00035  dbSNP: rs146782397

Total submissions: 8

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231132	SCV000284828	benign	Spastic paraplegia	2024-01-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000192521	SCV000339799	benign	not specified	2016-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317697	SCV000850711	benign	Inborn genetic diseases	2017-05-28	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV001529378	SCV001941145	benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847869	SCV002105402	likely benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529378	SCV001742714	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000192521	SCV001963860	benign	not specified		no assertion criteria provided	clinical testing