ClinVar Miner

Variants studied for Alstrom syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
697 417 2994 2415 122 10 6322

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALMS1 673 397 2862 2293 114 10 6030
ALMS1, LOC126806252 23 20 130 122 8 0 289
ALMS1, ALMS1-IT1 1 0 0 0 0 0 1
ALMS1, CCT7, EGR4, EMX1, FBXO41, NOTO, PRADC1, RAB11FIP5, SFXN5, SMYD5, SPR 0 0 1 0 0 0 1
LRRC37A2, NSF 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 90
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 626 64 2444 2348 112 0 5594
Natera, Inc. 81 136 689 104 64 0 1074
Counsyl 17 117 403 151 0 0 688
Fulgent Genetics, Fulgent Genetics 23 30 415 88 3 0 559
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 27 23 27 0 77
Myriad Genetics, Inc. 0 58 0 0 0 0 58
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 3 33 5 10 0 51
Genome-Nilou Lab 2 2 16 3 20 0 43
New York Genome Center 0 1 40 0 0 0 41
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 22 0 0 0 0 41
Laboratory of Genetics in Ophthalmology, Institut Imagine 25 0 0 0 0 0 25
Revvity Omics, Revvity 5 6 9 0 0 0 20
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 17 0 0 0 18
Baylor Genetics 2 0 15 0 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 3 3 0 1 0 12
Illumina Laboratory Services, Illumina 0 0 9 0 2 0 11
3billion 7 2 1 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 7 3 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 7 1 0 1 0 0 9
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 9 0 0 0 0 0 9
Mendelics 8 0 0 0 1 0 9
Clinical Genomics Laboratory, Stanford Medicine 0 0 8 0 0 0 8
OMIM 8 0 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 6 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 3 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 5 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 5 0 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 0 5
Phosphorus, Inc. 0 1 3 0 1 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 0 0 0 0 4
Department of Pediatrics, National Cheng-Kung University Hospital 2 2 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 3 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 1 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 3
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 3 0 0 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 0 0 3
Pars Genome Lab 0 0 0 3 0 0 3
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Center for Reproductive Medicine and Prenatal Diagnosis, The First Hospital of Jilin University 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 2 0 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Rare Diseases Lab, University of Vigo 2 0 0 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 0 2 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 0 0 0 1
Department of Neurology, Kindai University 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 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 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pediatrics Research Institute, Children's Hospital of Fudan University 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1

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