ClinVar Miner

Variants studied for myopathy caused by variation in FKRP

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
44 89 156 22 11 1 289

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 not provided total
FKRP 43 89 155 22 11 1 287
FKRP, LOC130064775, STRN4 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 9 3 102 9 7 0 130
Baylor Genetics 30 48 3 0 0 0 81
Fulgent Genetics, Fulgent Genetics 5 6 50 6 2 0 69
Counsyl 5 30 22 6 0 0 63
OMIM 15 0 0 0 0 0 15
Genome-Nilou Lab 1 0 3 1 3 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 4 0 0 0 6
MGZ Medical Genetics Center 1 3 1 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 2 0 0 0 5
Athena Diagnostics 2 0 0 0 2 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Phosphorus, Inc. 0 0 1 0 2 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 1 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
GeniaGeo, Laboratorio Genia 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1

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