ClinVar Miner

Variants studied for Alport syndrome

Included ClinVar conditions (6):
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 total
814 172 288 65 61 1376

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL4A5 765 30 24 4 19 838
COL4A4 17 67 156 37 22 293
COL4A3, LOC654841 25 71 102 24 20 228
COL4A3 4 2 6 0 0 12
COL4A5, COL4A6 4 1 0 0 0 5
ATG4A, COL4A5, COL4A6 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Institute,ARUP Laboratories 739 3 13 4 19 778
Illumina Clinical Services Laboratory,Illumina 0 0 163 45 32 240
Counsyl 14 102 65 16 0 197
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 30 47 44 0 0 120
OMIM 27 0 0 0 0 27
Athena Diagnostics Inc 0 0 0 0 15 15
Fulgent Genetics 5 2 4 0 0 11
Genetic Diagnostic Laboratory,University of Szeged 9 1 0 0 0 10
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 5 0 0 0 8
Institute of Human Genetics,Cologne University 3 2 2 0 0 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 3 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 3 1 0 0 0 4
GeneReviews 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 3 0 0 0 3
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 2 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 0 0 0 2
Molecular Medicine Center, Medical University of Sofia 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 2
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 1

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