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
185	53	627	685	30	1574

Gene and significance breakdown #

Total genes and gene combinations: 10

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FKRP	111	27	333	377	13	861
FKTN	70	24	286	308	17	699
FKTN, TAL2, TMEM38B	2	0	1	0	0	3
LARGE1	0	0	3	0	0	3
CELSR1	0	0	2	0	0	2
POMT1	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
RXYLT1	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	183	49	617	685	28	1562
Natera, Inc.	5	2	86	7	9	109
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	2	0	0	0	3
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

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