ClinVar Miner

Variants studied for Autosomal recessive Alport syndrome

Coded as:
Minimum submission review status: Collection method:
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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
106 385 155 31 68 1 716

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A4 61 202 91 17 35 1 396
COL4A3, MFF-DT 42 181 62 14 33 0 313
COL4A3, LOC129935730 2 2 1 0 0 0 5
CACNA1D 0 0 1 0 0 0 1
COL4A3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 13 100 66 16 0 0 195
Myriad Genetics, Inc. 1 150 5 0 0 0 156
Genome-Nilou Lab 0 2 14 13 64 0 93
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 24 0 0 0 0 52
MVZ Medizinische Genetik Mainz 10 32 8 0 0 0 50
3billion 13 12 16 0 0 0 41
Molecular Biology Laboratory, Fundació Puigvert 12 18 0 0 0 0 30
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 12 11 0 0 0 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 7 1 0 0 14
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 8 3 0 0 0 14
Medical Genetics, University of Parma 0 7 6 0 0 0 13
OMIM 10 0 0 0 0 0 10
Baylor Genetics 2 1 7 0 0 0 10
Precision Medicine Center, Zhengzhou University 0 7 3 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 2 4 4 0 0 0 10
Centogene AG - the Rare Disease Company 3 2 4 0 0 0 9
Molecular Genetics, Royal Melbourne Hospital 1 2 4 0 2 0 9
Eurofins-Biomnis 3 3 2 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 2 0 0 0 7
Institute of Human Genetics, Cologne University 2 1 2 0 0 0 5
Mendelics 0 0 4 0 1 0 5
Athena Diagnostics 0 0 0 0 4 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 0 0 0 4
MGZ Medical Genetics Center 1 1 1 0 0 0 3
Illumina Laboratory Services, Illumina 0 1 2 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 0 0 0 2
Genetic Diagnostic Laboratory, University of Szeged 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 2
Division of Nephrology, Beth Israel Deaconess Medical Center 0 2 0 0 0 0 2
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 2 0 0 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 2 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
H. Huang Group, Central South University 1 0 0 0 0 0 1
Watson Genetic Lab 1 0 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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