ClinVar Miner

Variants studied for congenital merosin-deficient muscular dystrophy 1A

Included ClinVar conditions (2):
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
113 347 165 29 27 10 643

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
LAMA2 109 340 160 28 27 8 625
LAMA2, LOC123864065 1 6 4 1 0 2 13
LAMA2, LOC126859784 3 1 1 0 0 0 5

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 67 98 19 0 0 0 184
Counsyl 19 74 64 20 0 0 177
Myriad Genetics, Inc. 1 161 3 0 0 0 165
Fulgent Genetics, Fulgent Genetics 10 7 60 7 3 0 87
Mendelics 16 3 0 1 3 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 11 0 12
Genome-Nilou Lab 0 0 0 0 12 0 12
3billion 7 3 1 0 0 0 11
OMIM 10 0 0 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 10 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 7 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 6 6
New York Genome Center 0 1 5 0 0 0 6
GeneReviews 1 0 0 0 0 4 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 0 1 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 2 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 4
Breda Genetics srl 1 2 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 3 0 0 0 3
Department of Medical Genetics, National Institute of Health 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 1 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 1 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 1

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