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

Total submissions: 8

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	2019-12-31	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
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