Submissions for variant NM_025137.4(SPG11):c.2621-15dup

dbSNP: rs577083743

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463659	SCV000557267	benign	Hereditary spastic paraplegia 11	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001721515	SCV000569378	benign	not provided	2019-03-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848825	SCV002105689	likely benign	Hereditary spastic paraplegia	2021-04-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467826	SCV002764032	likely benign	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467827	SCV002764033	likely benign	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000463659	SCV002764034	likely benign	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001721515	SCV004698415	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SPG11: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003899960	SCV004719835	benign	SPG11-related disorder	2024-01-18	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).