ClinVar Miner

Variants in gene ITPR1

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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 not provided total
48 54 1025 850 296 65 2126

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 33 24 793 804 247 0 1816
Inborn genetic diseases 2 5 210 9 0 0 226
Autosomal dominant cerebellar ataxia 0 0 87 29 73 0 189
not specified 0 1 36 49 84 0 161
ITPR1-related disorder 0 0 16 52 4 0 72
Spinocerebellar ataxia type 29 12 16 15 7 7 0 51
Gillespie syndrome 10 6 21 0 6 0 43
Spinocerebellar ataxia type 15/16 4 7 18 0 7 1 35
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 0 2 12 9 2 1 25
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 11 11
Uterine corpus endometrial carcinoma 0 0 0 0 0 9 9
Intellectual disability 0 1 0 6 1 0 8
Lung cancer 0 0 0 0 0 7 7
Familial cancer of breast 0 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
Thymoma 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Familial pancreatic carcinoma 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
ITPR1-related syndromic and non-syndromic hereditary ataxias 0 0 3 0 0 0 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
See cases 0 0 1 2 0 0 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Glioma susceptibility 1 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16 0 0 2 0 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
Colon adenocarcinoma 0 0 0 0 0 1 1
ITPR1-related disorders 0 1 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Multiple sclerosis 0 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Spastic ataxia 0 1 0 0 0 0 1
Spinocerebellar ataxia type 15/16; Gillespie syndrome 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 23 8 524 667 79 0 1301
GeneDx 11 5 249 142 177 0 584
Athena Diagnostics 0 2 113 36 96 0 247
Ambry Genetics 2 5 210 9 0 0 226
Illumina Laboratory Services, Illumina 0 0 90 29 73 0 192
Breakthrough Genomics, Breakthrough Genomics 0 0 7 41 98 0 146
CeGaT Center for Human Genetics Tuebingen 1 3 52 71 2 0 129
PreventionGenetics, part of Exact Sciences 0 0 14 52 4 0 70
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 62 62
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 24 11 0 0 38
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 6 21 0 33
Revvity Omics, Revvity 1 1 21 1 0 0 24
Baylor Genetics 1 2 15 0 0 0 17
Fulgent Genetics, Fulgent Genetics 0 1 4 9 2 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 7 5 0 13
3billion 1 1 10 0 0 0 12
Eurofins Ntd Llc (ga) 0 1 5 3 3 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 4 4 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 6 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 6 1 0 8
OMIM 7 0 0 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
New York Genome Center 0 0 6 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 4 0 0 0 5
Mendelics 1 1 1 0 2 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 0 4 0 0 0 5
Center of Human Genetics, Hôpital Erasme 1 3 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 0 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 2 0 0 0 0 4
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 2 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 2 0 0 3
MGZ Medical Genetics Center 1 1 1 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 1 1 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genetics Department, University Hospital of Toulouse 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Suma Genomics 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 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
Bionano Laboratories 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
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Dasa 0 0 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Molecular Biology and Genetics, Acibadem University 0 1 0 0 0 0 1
Department of Rehabilitation Medicine, Chungnam National University Hospital 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Plataforma de Genómica Funcional - SJD, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 1 0 0 0 0 0 1
Shriners Children's Clinical Research, Shriners Children's Northern California 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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