ClinVar Miner

Variants studied for Autosomal recessive ataxia, Beauce type

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
57 41 429 57 131 2 712

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNE1 55 40 402 54 120 2 668
ESR1, SYNE1 0 0 13 2 7 0 22
LOC126859837, SYNE1 1 1 7 0 1 0 10
LOC129997480, SYNE1 0 0 5 0 1 0 6
LOC126859838, SYNE1 1 0 2 1 0 0 4
LOC126859836, SYNE1 0 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 380 57 113 0 550
Genome-Nilou Lab 0 0 0 0 31 0 31
Baylor Genetics 1 2 14 0 0 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 10 0 0 0 14
OMIM 10 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 6 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 6 0 0 0 9
Genetic Services Laboratory, University of Chicago 8 1 0 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 4 0 0 0 8
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 6 0 1 0 1 0 8
Mendelics 1 0 2 1 3 0 7
Solve-RD Consortium 0 7 0 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 4 2 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 5
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 3 1 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 2 1 1 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
3billion 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1

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