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
82 127 628 169 11 2 1007

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALMS1 82 127 628 169 11 2 1007

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 17 117 403 151 0 0 688
Invitae 43 1 220 11 5 0 280
Illumina Clinical Services Laboratory,Illumina 0 0 39 7 3 0 49
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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 1 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Integrated Genetics/Laboratory Corporation of America 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
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
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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