ClinVar Miner

Variants studied for Alstrom syndrome

Coded as:
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
238 155 896 811 110 2 2114

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 not provided total
ALMS1 238 155 895 811 110 2 2113
ALMS1, CCT7, EGR4, EMX1, FBXO41, NOTO, PRADC1, RAB11FIP5, SFXN5, SMYD5, SPR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 179 20 469 689 103 0 1460
Counsyl 17 117 403 151 0 0 688
Natera, Inc. 7 2 120 40 45 0 214
Illumina Clinical Services Laboratory,Illumina 0 0 41 6 5 0 52
Nilou-Genome Lab 2 2 16 3 20 0 43
Laboratory of Genetics in Ophthalmology,Institut Imagine 24 0 0 0 0 0 24
Baylor Genetics 0 0 13 0 0 0 13
Fulgent Genetics,Fulgent Genetics 1 0 11 0 0 0 12
OMIM 8 0 0 0 0 0 8
Mendelics 5 0 0 0 1 0 6
Genetic Services Laboratory, University of Chicago 5 0 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 0 0 0 0 5
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 5 0 0 0 0 0 5
Phosphorus, Inc. 0 1 3 0 1 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 1 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 1 0 0 0 4
Molecular Genetics Laboratory,Institute for Ophthalmic Research 3 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 1 0 3
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Pars Genome Lab 0 0 0 3 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 2 0 0 0 0 2
Laboratory of Medical Genetics, INSERM 2 0 0 0 0 0 2
Rare Diseases Lab,University of Vigo 2 0 0 0 0 0 2
Clinical Genetics Laboratory,University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Pediatrics Research Institute,Children's Hospital of Fudan University 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Neurology,Kindai University 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects,Beijing Children's Hospital 0 1 0 0 0 0 1

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