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
113 410 234 130 72 2 921

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 61 202 129 64 36 2 475
COL4A3, MFF-DT 49 206 100 63 36 0 433
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: 52
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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 19 0 0 0 0 39
Molecular Biology Laboratory, Fundació Puigvert 12 18 0 0 0 0 30
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 Inc 0 0 0 0 12 0 12
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 8 2 0 0 0 12
OMIM 10 0 0 0 0 0 10
Baylor Genetics 2 1 7 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
Precision Medicine Center, Zhengzhou University 0 6 2 0 0 0 8
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
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 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
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
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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

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