Variants studied for Walker-Warburg congenital muscular dystrophy

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
211	63	628	713	30	1633

Gene and significance breakdown #

Total genes and gene combinations: 10

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FKRP	124	34	333	390	13	894
FKTN	82	26	287	323	17	723
FKTN, TAL2, TMEM38B	2	0	1	0	0	3
LARGE1	0	0	3	0	0	3
POMT1	1	2	0	0	0	3
CELSR1	0	0	2	0	0	2
RXYLT1	1	1	0	0	0	2
ABCA1, FKTN, FSD1L, SLC44A1, TAL2, TMEM38B	0	0	1	0	0	1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4	0	0	1	0	0	1
FKTN, FSD1L, LOC130002286, LOC130002287	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	208	58	612	713	28	1619
Natera, Inc.	5	2	86	7	9	109
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	3	0	0	0	5
Illumina Laboratory Services, Illumina	0	0	3	0	0	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	2	0	0	2
Reproductive Health Research and Development, BGI Genomics	1	0	0	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.