Variants studied for congenital myasthenic syndrome 17

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
10	8	436	426	49	916

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LRP4	10	8	435	423	49	912
LOC130005663, LRP4	0	0	1	3	0	4

Submitter and significance breakdown #

Total submitters: 6

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	8	5	426	418	46	903
Fulgent Genetics, Fulgent Genetics	1	3	102	36	2	144
Genome-Nilou Lab	0	0	0	0	8	8
OMIM	2	0	0	0	0	2
Centogene AG - the Rare Disease Company	0	0	2	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.