Submissions for variant NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)

gnomAD frequency: 0.00010  dbSNP: rs199592861

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000415952	SCV000226426	uncertain significance	not provided	2014-06-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000415952	SCV000493379	uncertain significance	not provided	2016-08-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000175007	SCV000513431	likely benign	not specified	2015-03-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522149	SCV001731629	benign	Spastic paraplegia	2024-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415749	SCV002718596	benign	Inborn genetic diseases	2018-02-16	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.