Submissions for variant NM_025137.4(SPG11):c.2445-32dup

dbSNP: rs374899647

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001587469	SCV001822356	likely benign	not provided	2019-08-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002070403	SCV002323756	benign	Hereditary spastic paraplegia 11	2024-01-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002468278	SCV002764046	likely benign	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002468279	SCV002764047	likely benign	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002070403	SCV002764048	likely benign	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506686	SCV002809595	benign	Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X	2022-03-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579620	SCV001807912	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579620	SCV001917685	benign	not specified		no assertion criteria provided	clinical testing