ClinVar Miner

Variants in gene combination COL4A3, LOC654841

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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
50 114 126 46 44 330

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Alport syndrome, autosomal recessive 16 59 29 1 0 102
Alport syndrome 0 1 59 23 14 97
not provided 14 44 24 2 13 95
not specified 0 0 6 22 30 54
Alport syndrome 3, autosomal dominant 18 13 13 0 0 44
Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive 0 0 0 0 11 11
Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 3 2 4 0 0 9
Benign familial hematuria 5 0 0 0 0 5
COL4A3-Related Disorders 0 2 1 0 0 3
Hematuria 0 0 1 0 0 1
Hematuria; Glomerulopathy 0 0 1 0 0 1
Macroscopic hematuria 0 1 0 0 0 1
Proteinuria; Microscopic hematuria; Microalbuminuria 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 2 60 23 14 99
Counsyl 11 52 27 1 0 91
Athena Diagnostics Inc 10 7 6 3 22 48
GeneDx 1 6 10 13 15 45
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 14 12 14 0 0 39
PreventionGenetics 0 0 0 9 27 36
Gharavi Laboratory,Columbia University 3 28 4 0 0 35
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 4 20 24
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 2 10 1 2 16
Integrated Genetics/Laboratory Corporation of America 2 1 2 1 2 8
Fulgent Genetics 3 1 4 0 0 8
OMIM 5 0 0 0 0 5
Genetic Diagnostic Laboratory,University of Szeged 4 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 1 0 0 3
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 2 0 1 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 3 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences (IUMS) 1 0 0 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 1

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