ClinVar Miner

Variants studied for Spinocerebellar ataxia type 29

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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 total
14 21 16 7 9 61

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ITPR1 13 17 15 7 7 53
ITPR1, LOC126806590 1 4 1 0 2 8

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Schule lab, Hertie Institute for Clinical Brain Research 5 0 0 7 0 12
Genome-Nilou Lab 0 0 0 0 8 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 3 1 0 0 7
3billion 2 1 3 0 0 6
Center of Human Genetics, Hôpital Erasme 1 3 0 0 0 4
Mendelics 1 0 1 0 2 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 1 0 0 0 4
New York Genome Center 0 1 3 0 0 4
Baylor Genetics 0 0 3 0 0 3
OMIM 3 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 0 1
Department of Rehabilitation Medicine, Chungnam National University Hospital 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Research Group Niklas Dahl, Uppsala University 1 0 0 0 0 1
Shriners Children's Clinical Research, Shriners Children's Northern California 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1

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