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

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
25	41	131	17	9	208

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FKRP	24	41	131	17	9	207
FKRP, LOC130064775, STRN4	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 30

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Natera, Inc.	9	3	102	9	7	130
Counsyl	5	30	22	6	0	63
OMIM	9	0	0	0	0	9
Genome-Nilou Lab	0	0	3	1	3	7
MGZ Medical Genetics Center	1	3	1	0	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	1	0	0	0	3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	3	0	0	0	0	3
Phosphorus, Inc.	0	0	1	0	2	3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	3	0	0	3
Baylor Genetics	2	0	0	0	0	2
Athena Diagnostics	2	0	0	0	0	2
Duke University Health System Sequencing Clinic, Duke University Health System	0	0	1	1	0	2
Undiagnosed Diseases Network, NIH	2	0	0	0	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	1	0	0	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	2	0	0	0	0	2
Institute of Human Genetics, Cologne University	0	1	0	0	0	1
Mendelics	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	1	0	0	0	1
Department of Medical Genetics, National Institute of Health	0	1	0	0	0	1
Institute of Human Genetics, University of Wuerzburg	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
GeniaGeo, Laboratorio Genia	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
Myriad Genetics, Inc.	1	0	0	0	0	1
Institute of Human Genetics, University Hospital Muenster	1	0	0	0	0	1
3billion, Medical Genetics	1	0	0	0	0	1
Inheritance Genetic Center	1	0	0	0	0	1

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