Submissions for variant NM_025137.4(SPG11):c.6477+13del

dbSNP: rs574960359

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000293545	SCV000391266	uncertain significance	Spastic Paraplegia, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000604740	SCV000715399	likely benign	not specified	2017-12-12	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625161	SCV000743943	likely benign	Hereditary spastic paraplegia 11	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625161	SCV001719718	benign	Hereditary spastic paraplegia 11	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529987	SCV002545245	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	SPG11: BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625161	SCV000745903	likely benign	Hereditary spastic paraplegia 11	2016-09-21	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529987	SCV001744417	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000604740	SCV001806799	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001529987	SCV001919574	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930353	SCV004741967	likely benign	SPG11-related disorder	2019-03-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).