ClinVar Miner

Variants studied for autosomal recessive metabolic cerebellar ataxia

Included ClinVar conditions (9):
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
227 220 620 500 82 24 1525

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP27A1 148 110 358 454 24 3 992
MTTP 20 62 116 28 38 5 251
TTPA 16 43 70 6 10 15 137
APOB 21 0 25 1 0 0 47
PCSK9 0 0 29 3 0 0 32
GRID2 10 3 10 0 2 0 25
GRM1 5 1 6 7 5 0 24
​intergenic 6 0 0 0 0 0 6
LOC126807124, MTTP 0 1 4 1 2 0 6
APOB, APOB3'MAR 0 0 2 0 0 0 2
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 1
GRM1, LOC126859821 0 0 0 0 0 1 1
POLG, POLGARF 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 126 16 298 440 20 0 900
Illumina Laboratory Services, Illumina 3 3 207 21 43 0 277
Natera, Inc. 39 4 103 38 35 0 219
Baylor Genetics 60 70 7 0 0 0 137
GeneReviews 57 0 0 0 3 22 82
Counsyl 7 37 34 3 0 0 81
Myriad Genetics, Inc. 7 68 0 0 0 0 75
Fulgent Genetics, Fulgent Genetics 16 4 18 10 1 0 49
OMIM 45 0 0 0 0 0 45
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 15 0 0 0 0 44
Genome-Nilou Lab 0 1 7 3 14 0 25
Revvity Omics, Revvity 15 4 2 0 0 0 21
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 5 9 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 0 8 1 0 11
Mendelics 4 3 0 1 2 0 10
New York Genome Center 1 0 9 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 5 0 4 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 6 0 0 0 7
3billion 5 1 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 4 2 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 1 1 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 5 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 1 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1 0 2
Pars Genome Lab 0 0 1 0 1 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

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