ClinVar Miner

Variants studied for X-linked Alport syndrome

Included ClinVar conditions (2):
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
865 153 428 76 132 1 1599

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A5 851 141 57 10 26 1 1053
COL4A4 4 5 209 47 52 0 302
COL4A3, MFF-DT 7 5 151 18 52 0 225
COL4A3 1 0 9 0 2 0 12
COL4A5, COL4A6 3 1 0 0 0 0 4
ATG4A, COL4A5, COL4A6 0 1 0 0 0 0 1
CLDN14 0 0 1 0 0 0 1
MSR1 0 0 0 1 0 0 1
MYO15A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Research and Development, ARUP Laboratories 739 3 13 4 19 0 778
Illumina Clinical Services Laboratory,Illumina 0 0 315 44 81 0 440
Natera, Inc. 6 2 70 28 71 0 177
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 35 32 16 1 0 0 84
Sydney Genome Diagnostics,Children's Hospital Westmead 28 16 9 0 0 0 53
Institute of Human Genetics, Klinikum rechts der Isar 32 4 0 0 0 0 36
Precision Medicine Center,Zhengzhou University 15 13 3 0 0 0 31
Molecular Biology Laboratory, Fundació Puigvert 15 13 0 0 0 0 28
Myriad Women's Health, Inc. 0 24 0 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 2 0 0 12 0 17
OMIM 15 0 0 0 0 0 15
Mendelics 3 4 3 0 4 0 14
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 7 4 0 0 0 0 11
Medical Genetics, University of Parma 2 7 2 0 0 0 11
Baylor Genetics 3 0 5 0 0 0 8
Genetic Diagnostic Laboratory,University of Szeged 7 1 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 5 1 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 1 3 0 0 0 7
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 5 1 0 0 0 7
Institute of Human Genetics,Cologne University 2 3 1 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 5 1 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 2 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 0 4
Counsyl 0 1 2 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Molecular Medicine Center, Medical University of Sofia 2 1 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 2 0 1 0 0 3
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 0 2 0 0 0 3
Institute of Clinical Laboratory Science,Nanjing University Affiliated Jinling Hospital 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 1

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