ClinVar Miner

Variants studied for Alstrom syndrome

Included ClinVar conditions (1):
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
237 153 893 564 97 2 1861

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 237 153 892 564 97 2 1860
ALMS1, CCT7, EGR4, EMX1, FBXO41, NOTO, PRADC1, RAB11FIP5, SFXN5, SMYD5, SPR 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 179 20 469 420 90 0 1178
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
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
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
Integrated Genetics/Laboratory Corporation of America 0 4 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 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
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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 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
Nilou-Genome Lab 1 0 0 1 0 0 2
Pars Genome Lab 0 0 0 2 0 0 2
Rare Diseases Lab,University of Vigo 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

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