ClinVar Miner

Variants studied for Alstrom syndrome

Coded as:
Minimum submission review status: Collection method:
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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 likely risk allele uncertain risk allele not provided total
607 280 2688 2127 122 2 8 4 5585

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
ALMS1 585 268 2571 2018 114 1 8 4 5327
ALMS1, LOC126806252 21 12 116 109 8 1 0 0 256
ALMS1, ALMS1-IT1 1 0 0 0 0 0 0 0 1
ALMS1, CCT7, EGR4, EMX1, FBXO41, NOTO, PRADC1, RAB11FIP5, SFXN5, SMYD5, SPR 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Invitae 549 52 2349 2056 110 0 0 0 5116
Counsyl 17 117 403 151 0 0 0 0 688
Natera, Inc. 36 8 423 95 64 0 0 0 626
Fulgent Genetics, Fulgent Genetics 23 30 415 88 3 0 0 0 559
Myriad Genetics, Inc. 0 58 0 0 0 0 0 0 58
Illumina Laboratory Services, Illumina 0 0 41 6 5 0 0 0 52
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 25 5 10 2 8 0 50
Genome-Nilou Lab 2 2 16 3 20 0 0 0 43
New York Genome Center 0 1 40 0 0 0 0 0 41
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 11 18 0 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 21 0 0 0 0 0 0 31
Laboratory of Genetics in Ophthalmology, Institut Imagine 25 0 0 0 0 0 0 0 25
Baylor Genetics 2 0 15 0 0 0 0 0 17
Revvity Omics, Revvity 4 2 6 0 0 0 0 0 12
Mendelics 8 0 0 0 1 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 7 1 0 1 0 0 0 0 9
OMIM 8 0 0 0 0 0 0 0 8
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 8 0 0 0 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 2 0 1 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 5 0 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 5 0 0 0 0 0 0 0 5
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 5 0 0 0 0 0 0 0 5
Phosphorus, Inc. 0 1 3 0 1 0 0 0 5
Clinical Genomics Program, Stanford Medicine 0 0 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 3 2 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 1 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 0 0 0 0 0 0 0 4
3billion 3 1 0 0 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 3 0 0 0 4
Department of Pediatrics, National Cheng-Kung University Hospital 2 2 0 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 1 0 0 0 3
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 3 0 0 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 0 0 3
Pars Genome Lab 0 0 0 3 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 0 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 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 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Sharon lab, Hadassah-Hebrew University Medical Center 0 2 0 0 0 0 0 0 2
Rare Diseases Lab, University of Vigo 2 0 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 0 0 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 0 0 2
Center for Reproductive Medicine and Prenatal Diagnosis, The First Hospital of Jilin University 2 0 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 1
Pediatrics Research Institute, Children's Hospital of Fudan University 1 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 0 1
Department of Neurology, Kindai University 1 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1

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