ClinVar Miner

Variants studied for autosomal recessive Alport syndrome

Included ClinVar conditions (5):
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
118 423 236 131 72 2 941

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 66 215 132 65 36 2 496
COL4A3, MFF-DT 49 206 99 63 36 0 432
COL4A3, LOC129935730 2 2 4 3 0 0 11
COL4A3 1 0 0 0 0 0 1
COL4A3, COL4A4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 46 77 108 100 2 0 333
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 20 21 0 0 0 0 41
Molecular Biology Laboratory, Fundació Puigvert 12 18 0 0 0 0 30
MVZ Medizinische Genetik Mainz 5 19 4 0 0 0 28
3billion 7 7 13 0 0 0 27
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 12 11 0 0 0 0 23
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
Athena Diagnostics 0 0 0 0 12 0 12
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
Centogene AG - the Rare Disease Company 3 2 4 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 4 4 0 0 0 9
Molecular Genetics, Royal Melbourne Hospital 1 2 4 0 2 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 3 3 0 0 0 8
Eurofins-Biomnis 3 3 2 0 0 0 8
Mendelics 0 0 4 0 1 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 2 3 0 0 0 5
Institute of Human Genetics, Cologne University 2 1 1 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 3
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
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 2 0 0 0 0 3
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 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
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 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 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

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