ClinVar Miner

Variants in gene ALMS1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
728 446 3547 3028 197 65 7135

Condition and significance breakdown #

Total conditions: 52
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alstrom syndrome 673 397 2862 2293 114 10 6030
Cardiovascular phenotype 78 8 843 1175 103 0 2207
not provided 78 35 716 238 93 5 1090
not specified 0 0 278 200 109 0 541
ALMS1-related disorder 7 9 183 66 1 0 266
Retinal dystrophy 24 12 36 1 0 0 73
Monogenic diabetes 0 0 4 35 26 0 65
Bardet-Biedl syndrome 3 3 1 0 0 0 7
Leber congenital amaurosis 4 3 0 0 0 0 7
Retinitis pigmentosa 4 3 0 0 0 0 7
Hepatocellular carcinoma 0 0 0 0 0 6 6
Lung cancer 0 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 6 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Hearing impairment 0 1 2 0 2 0 5
Malignant tumor of urinary bladder 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 4 4
Retinal dystrophy, early-onset severe 4 0 0 0 0 0 4
Thymoma 0 0 0 0 0 4 4
Cholangiocarcinoma 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Malignant tumor of esophagus 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Cardiomyopathy 2 0 0 0 0 0 2
Glioma susceptibility 1 0 0 0 0 0 2 2
Intellectual disability 2 0 0 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Nephrotic syndrome 0 0 2 0 0 0 2
Occult maculopathy 1 0 1 0 0 0 2
Optic atrophy 0 0 2 0 0 0 2
See cases 0 1 1 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Abnormality of the eye 1 0 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Alström Syndrom 0 1 0 0 0 0 1
Cone-rod dystrophy 1 0 0 0 0 0 1
Down syndrome 0 0 1 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Early onset severe obesity 0 0 0 0 1 0 1
Gastric cancer 0 0 0 0 0 1 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Leukodystrophy; Visual impairment; Hearing impairment; Stage 5 chronic kidney disease 0 1 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Monogenic hearing loss 1 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Stickler syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 128
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 605 60 2340 2231 104 0 5340
Ambry Genetics 78 8 843 1175 103 0 2207
Natera, Inc. 79 130 655 98 61 0 1023
GeneDx 54 21 654 178 94 0 999
Counsyl 17 112 376 142 0 0 647
Fulgent Genetics, Fulgent Genetics 23 30 390 81 3 0 527
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 22 222 112 38 0 413
PreventionGenetics, part of Exact Sciences 7 9 183 70 9 0 278
CeGaT Center for Human Genetics Tuebingen 14 4 36 85 5 0 144
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 31 42 56 0 132
Breakthrough Genomics, Breakthrough Genomics 0 0 17 29 54 0 100
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 26 23 27 0 76
Genetic Services Laboratory, University of Chicago 6 0 36 20 8 0 70
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 4 35 26 0 65
Eurofins Ntd Llc (ga) 4 0 39 8 8 0 59
Clinical Genetics, Academic Medical Center 4 1 0 13 40 0 58
Myriad Genetics, Inc. 0 56 0 0 0 0 56
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 2 0 17 32 0 52
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 50 50
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 13 1 34 1 0 0 49
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 32 5 10 0 48
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 2 2 29 6 0 43
New York Genome Center 0 1 38 0 0 0 39
Genome-Nilou Lab 2 2 15 2 17 0 38
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 33 0 0 34
Laboratory of Genetics in Ophthalmology, Institut Imagine 29 0 1 0 0 0 30
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 0 1 6 16 0 29
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 8 12 7 0 27
Blueprint Genetics 11 10 4 0 0 0 25
Athena Diagnostics 0 0 1 2 21 0 24
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 17 0 19
Revvity Omics, Revvity 5 6 8 0 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 17 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 6 2 2 1 0 15
Baylor Genetics 2 0 12 0 0 0 14
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 1 0 7 3 0 13
Illumina Laboratory Services, Illumina 0 0 9 0 2 0 11
Mendelics 8 0 0 0 3 0 11
3billion 7 2 1 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 7 3 0 0 0 10
Clinical Genomics Laboratory, Stanford Medicine 0 0 8 1 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 7 1 0 1 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 1 4 0 0 0 9
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 9 0 0 0 0 0 9
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 9 0 0 0 9
OMIM 8 0 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 6 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Dasa 7 0 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 2 0 0 0 0 6
DBGen Ocular Genomics 3 3 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 5 0 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 0 0 3 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 5 0 0 0 5
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 2 3 0 0 0 5
Gharavi Laboratory, Columbia University 0 0 5 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 5
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University 0 0 0 0 0 5 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 0 5
Phosphorus, Inc. 0 1 3 0 1 0 5
Department of Pediatrics, National Cheng-Kung University Hospital 2 2 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 3 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 0 0 0 0 0 4
Molecular Genetics Laboratory, Institute for Ophthalmic Research 4 0 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 3 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 3 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 1 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 0 0 0 3
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 3 0 0 0 0 0 3
Pars Genome Lab 0 0 0 3 0 0 3
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 1 1 0 0 0 3
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 2 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Center for Reproductive Medicine and Prenatal Diagnosis, The First Hospital of Jilin University 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 2 0 0 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 2 0 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 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
Rare Diseases Lab, University of Vigo 2 0 0 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 1 1 0 0 0 0 2
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 0 0 0 1
Department of Neurology, Kindai University 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pediatrics Research Institute, Children's Hospital of Fudan University 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1

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