ClinVar Miner

Variants in gene ALMS1

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
72 134 727 336 95 5 1270

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alstrom syndrome 62 119 592 213 67 0 1043
not specified 0 0 62 136 73 0 248
not provided 15 15 141 13 17 5 202
Monogenic diabetes 0 0 5 21 10 0 36
Bardet-Biedl syndrome 0 1 0 0 0 0 1
Retinal dystrophy 0 1 0 0 0 0 1
Retinitis pigmentosa 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 16 114 403 151 0 0 684
Invitae 22 0 178 55 64 0 319
GeneDx 11 8 106 121 47 0 293
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 40 8 8 0 60
Integrated Genetics/Laboratory Corporation of America 0 1 26 6 20 0 53
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 5 6 41 0 52
Illumina Clinical Services Laboratory,Illumina 0 0 39 7 3 0 49
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 5 21 10 0 36
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 8 12 7 0 27
Genetic Services Laboratory, University of Chicago 5 0 13 8 0 0 26
PreventionGenetics 0 0 0 4 8 0 12
Fulgent Genetics 1 0 11 0 0 0 12
Athena Diagnostics Inc 0 0 0 1 10 0 11
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 9 0 0 0 9
OMIM 8 0 0 0 0 0 8
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 5 0 0 0 0 5
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 0 0 0 0 0 5 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
Gharavi Laboratory,Columbia University 0 0 5 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 3 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 0 0 0 4
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
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 0 1
Center for Human Disease Modeling,Duke University Medical Center 0 1 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
NIHR Bioresource Rare Diseases,University of Cambridge 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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