ClinVar Miner

Variants studied for Autosomal recessive ataxia, Beauce type

Coded as:
Minimum submission review status: Collection method:
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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
55 35 429 57 131 2 704

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 53 34 402 54 120 2 660
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: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 382 57 113 0 552
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
Genetic Services Laboratory, University of Chicago 8 1 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 6 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
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
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1

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