ClinVar Miner

Variants in gene LAMB2

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Minimum submission review status: Collection method:
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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 drug response total
53 36 564 364 48 3 971

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 33 11 438 301 44 0 819
Pierson syndrome 8 8 91 15 20 0 142
LAMB2-related infantile-onset nephrotic syndrome 10 8 90 13 19 0 140
not provided 9 4 47 35 14 0 105
Inborn genetic diseases 0 1 82 8 0 0 91
LAMB2-related condition 3 1 8 35 1 0 48
not specified 0 0 4 12 18 0 32
Nephrotic syndrome 1 8 12 0 0 0 21
Kidney disorder 0 1 6 3 3 0 13
Focal segmental glomerulosclerosis 0 0 6 5 1 0 12
Corticosteroids response 0 0 0 0 0 3 3
Atypical hemolytic-uremic syndrome 0 0 0 1 0 0 1
Diffuse mesangial sclerosis 0 0 1 0 0 0 1
Glomerulonephritis 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 drug response total
Invitae 33 8 432 303 44 0 820
Fulgent Genetics, Fulgent Genetics 2 3 108 29 3 0 145
Illumina Laboratory Services, Illumina 0 0 91 14 19 0 123
Ambry Genetics 0 1 82 8 0 0 91
PreventionGenetics, part of Exact Sciences 3 1 8 41 15 0 68
GeneDx 3 0 17 17 11 0 48
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 10 9 4 0 24
CeGaT Center for Human Genetics Tuebingen 1 0 9 10 3 0 23
Athena Diagnostics Inc 0 1 4 4 7 0 16
Revvity Omics, Revvity 5 1 8 0 0 0 14
OMIM 11 0 0 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 2 0 8
Baylor Genetics 1 2 4 0 0 0 7
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 4 3 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 2 0 6
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 0 0 6
Eurofins Ntd Llc (ga) 0 0 2 2 1 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 4 0 0 0 5
Sydney Genome Diagnostics, Children's Hospital Westmead 1 1 3 0 0 0 5
3billion 1 2 1 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
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Blueprint Genetics 1 0 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 2 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

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