ClinVar Miner

Variants studied for autosomal recessive ataxia, Beauce type

Included ClinVar conditions (4):
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
60 22 1199 347 172 2 1682

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
SYNE1 59 22 1168 342 164 2 1639
ESR1, SYNE1 0 0 31 5 8 0 42
ESR1, FBXO5, LINC02840, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 29 8 869 311 126 0 1343
Illumina Clinical Services Laboratory,Illumina 0 0 381 57 113 0 551
Fulgent Genetics,Fulgent Genetics 1 0 13 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 10 0 0 0 14
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
Baylor Genetics 0 0 7 0 0 0 7
Mendelics 0 0 3 1 2 0 6
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 3 1 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
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
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare 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
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Fundacion Diagnosis 0 1 0 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 0 1

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