ClinVar Miner

Variants in gene COL4A4

Minimum submission review status: Collection method:
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Gene type:
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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
43 99 186 65 51 397

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Alport syndrome 0 0 99 22 18 139
Alport syndrome, autosomal recessive 12 53 39 15 4 122
not provided 22 32 23 2 24 101
not specified 0 0 9 27 41 69
Alport syndrome 3, autosomal dominant 5 14 19 0 0 38
Benign familial hematuria 6 1 0 0 0 7
Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertension 0 2 0 0 0 2
Stage 5 chronic kidney disease; Hyperkalemia; Thrombocytopenia; Hypertension 0 0 2 0 0 2
Specific language impairment 5 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 99 22 18 139
Counsyl 3 48 37 15 0 103
Athena Diagnostics Inc 9 11 10 2 30 62
GeneDx 3 3 6 18 28 58
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 7 18 20 0 0 45
PreventionGenetics 0 0 0 8 29 37
Gharavi Laboratory,Columbia University 10 16 1 0 0 27
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 24 26
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 13 1 3 17
OMIM 8 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 4
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
Institute of Human Genetics,Cologne University 1 1 1 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
Genetic Diagnostic Laboratory,University of Szeged 3 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 1 0 2
Fulgent Genetics 1 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 1

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