ClinVar Miner

Variants in gene ITPR1

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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
40 37 756 700 297 3 1661

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 24 20 589 652 251 0 1458
Autosomal dominant cerebellar ataxia 0 0 99 34 75 0 208
not specified 0 1 18 22 72 0 107
Inborn genetic diseases 3 3 72 2 0 0 80
ITPR1-related condition 0 0 9 52 3 0 64
Spinocerebellar ataxia type 29 11 9 9 7 7 0 41
Gillespie syndrome 10 2 17 0 6 0 35
Spinocerebellar ataxia type 15/16 3 3 8 0 7 1 21
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 0 1 4 9 2 1 16
Intellectual disability 0 1 1 7 1 0 10
ITPR1-related syndromic and non-syndromic hereditary ataxias 0 0 3 0 0 0 3
Neurodevelopmental disorder 2 0 0 0 0 0 2
See cases 0 0 0 2 0 0 2
Atypical behavior; Slurred speech; Progressive gait ataxia; Movement disorder 0 0 1 0 0 0 1
Bilateral congenital mydriasis 0 1 0 0 0 0 1
Cerebellar ataxia 0 0 1 0 0 0 1
Spastic ataxia 0 1 0 0 0 0 1
Spinocerebellar ataxia type 15/16; Gillespie syndrome 0 0 0 0 0 1 1
Spinocerebellar ataxia type 29; Gillespie syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 4 405 521 80 0 1025
GeneDx 9 6 168 149 181 0 513
Illumina Laboratory Services, Illumina 0 0 102 34 75 0 211
Athena Diagnostics Inc 0 2 90 19 91 0 202
CeGaT Center for Human Genetics Tuebingen 1 3 31 44 3 0 82
Ambry Genetics 3 3 72 2 0 0 80
PreventionGenetics, part of Exact Sciences 0 0 9 52 3 0 64
Revvity Omics, Revvity 1 1 19 1 0 0 22
Baylor Genetics 1 2 15 0 0 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 5 0 14
Eurofins Ntd Llc (ga) 0 1 5 4 3 0 13
Fulgent Genetics, Fulgent Genetics 0 0 1 9 2 0 12
Schule lab, Hertie Institute for Clinical Brain Research 5 0 0 7 0 0 12
Genetic Services Laboratory, University of Chicago 1 2 3 5 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 1 6 0 10
OMIM 9 0 0 0 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 7 1 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 5 2 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 0 0 7
New York Genome Center 0 1 6 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Mendelics 1 0 1 0 2 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 2 0 0 0 0 4
3billion 1 1 2 0 0 0 4
MGZ Medical Genetics Center 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 1 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 3 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 1 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 3 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 2 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
Genetics Department, University Hospital of Toulouse 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Suma Genomics 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Molecular Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Rehabilitation Medicine, Chungnam National University Hospital 1 0 0 0 0 0 1

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