ClinVar Miner

Variants studied for autosomal recessive ataxia, Beauce type

Included ClinVar conditions (5):
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
140 54 2429 1590 244 4 4267

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNE1 132 52 2307 1501 227 4 4036
LOC126859837, SYNE1 4 2 44 34 3 0 86
ESR1, SYNE1 0 0 36 15 8 0 57
LOC129997480, SYNE1 1 0 21 18 2 0 39
LOC126859838, SYNE1 2 0 14 16 0 0 31
LOC126859836, SYNE1 0 0 6 6 4 0 16
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 98 25 2146 1538 224 0 4031
Illumina Laboratory Services, Illumina 0 0 382 57 113 0 552
Fulgent Genetics, Fulgent Genetics 1 0 23 21 0 0 45
Genome-Nilou Lab 0 0 0 0 31 0 31
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 10 0 0 0 14
Baylor Genetics 0 2 11 0 0 0 13
OMIM 10 0 0 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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 6 0 1 0 1 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 4 0 0 0 8
Mendelics 1 0 2 1 3 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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 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
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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
Fundacion Diagnosis 0 1 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
Neuberg Centre For Genomic Medicine, NCGM 0 1 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

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