Variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2E

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	not provided	total
82	64	153	214	7	1	475

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SGCB	62	53	133	185	7	1	403
LOC129992585, SGCB	19	11	19	29	0	0	70
LOC129992584, LOC129992585, SGCB	1	0	1	0	0	0	2

Submitter and significance breakdown #

Total submitters: 26

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	66	6	120	212	7	0	411
Revvity Omics, Revvity	16	13	37	0	0	0	66
Natera, Inc.	6	1	38	3	2	0	50
Baylor Genetics	17	23	0	0	0	0	40
Counsyl	1	18	10	1	0	0	30
OMIM	9	0	0	0	0	0	9
Fulgent Genetics, Fulgent Genetics	2	1	6	0	0	0	9
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	2	4	3	0	0	0	9
Mendelics	4	1	0	0	0	0	5
Myriad Genetics, Inc.	1	3	0	0	0	0	4
Genome-Nilou Lab	0	0	2	1	1	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	3	0	0	0	3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	1	0	0	0	2
SIB Swiss Institute of Bioinformatics	0	2	0	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	1	0	0	0	2
Pars Genome Lab	0	0	1	0	1	0	2
Athena Diagnostics Inc	1	0	0	0	0	0	1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	1	0	0	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	0	1
Department of Medical Genetics, National Institute of Health	0	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	0	1
3billion	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	1	0	0	0	0	0	1

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