ClinVar Miner

Variants in gene LAMB2

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 drug response total
24 13 286 102 37 3 428

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 6 1 189 60 28 0 284
Nephrotic syndrome, type 5, with or without ocular abnormalities 9 5 88 13 19 0 134
Pierson syndrome 7 3 91 14 19 0 134
not provided 2 3 16 34 8 0 62
not specified 0 0 4 12 15 0 30
Nephrotic syndrome 1 1 11 0 0 0 13
Corticosteroid response 0 0 0 0 0 3 3
Focal segmental glomerulosclerosis 0 0 1 0 0 0 1
Glomerulonephritis (disease) 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Invitae 6 1 189 83 31 0 310
Illumina Clinical Services Laboratory,Illumina 0 0 92 14 19 0 124
PreventionGenetics, PreventionGenetics 0 0 0 7 14 0 21
Athena Diagnostics Inc 0 1 4 5 6 0 16
OMIM 11 0 0 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 1 0 0 9
Baylor Genetics 1 1 4 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 0 0 2 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 2 1 0 5
Sydney Genome Diagnostics,Children's Hospital Westmead 1 1 3 0 0 0 5
GeneDx 2 0 2 0 0 0 4
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 3 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Blueprint Genetics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences,Kyushu University 0 1 0 0 0 0 1

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