Submissions for variant NM_025137.4(SPG11):c.258-6del

dbSNP: rs373234269

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514959	SCV000610453	likely benign	not provided	2017-05-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000615064	SCV000732452	benign	not specified	2017-07-06	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	RCV001079664	SCV000764288	benign	Hereditary spastic paraplegia 11	2025-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848881	SCV002105688	likely benign	Hereditary spastic paraplegia	2020-04-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467846	SCV002762906	likely benign	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467847	SCV002762907	likely benign	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001079664	SCV002762908	likely benign	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000615064	SCV005622281	benign	not specified	2024-04-10	criteria provided, single submitter	clinical testing