Submissions for variant NM_025137.4(SPG11):c.6755-17_6755-15del

dbSNP: rs143026515

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000328669	SCV000391264	likely benign	Spastic Paraplegia, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000605058	SCV000730069	benign	not specified	2018-02-23	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.
Invitae	RCV001519460	SCV001728332	benign	Hereditary spastic paraplegia 11	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467734	SCV002763667	likely benign	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467735	SCV002763668	likely benign	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001519460	SCV002763669	likely benign	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000605058	SCV001741896	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000605058	SCV001809719	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000605058	SCV001930277	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000605058	SCV002034366	benign	not specified		no assertion criteria provided	clinical testing