Submissions for variant NM_006158.4(NEFL):c.667C>T (p.Leu223=) (rs60156239)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000375590	SCV000335077	benign	not specified	2015-09-28	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000352974	SCV000473132	likely benign	Charcot-Marie-Tooth disease, type I	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001082849	SCV000563614	benign	Charcot-Marie-Tooth disease type 2E	2020-11-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000057146	SCV000842904	benign	not provided	2017-11-22	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173735	SCV001336849	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001287583	SCV001474287	benign	none provided	2019-11-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000057146	SCV001841935	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000057146	SCV000088259	not provided	not provided		no assertion provided	not provided
Inherited Neuropathy Consortium	RCV000375590	SCV000928963	benign	not specified		no assertion criteria provided	literature only
Clinical Genetics,Academic Medical Center	RCV000375590	SCV001918521	benign	not specified		no assertion criteria provided	clinical testing