ClinVar Miner

Variants studied for LAMB2-related infantile-onset nephrotic syndrome

Included ClinVar conditions (3):
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 total
49 25 518 313 46 905

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LAMB2 47 25 503 308 45 883
LAMB2, LOC129936738 1 0 15 4 1 20
AMT, C3orf62, C3orf84, CCDC71, DAG1, GPX1, IHO1, KLHDC8B, LAMB2, NICN1, RHOA, TCTA, USP4 1 0 0 0 0 1
SERPINA10 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 35 8 446 299 45 833
Fulgent Genetics, Fulgent Genetics 2 3 110 30 3 148
Illumina Laboratory Services, Illumina 0 0 92 14 19 124
OMIM 11 0 0 0 0 11
Baylor Genetics 1 2 4 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 0 4 3 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 0 0 2 6
3billion 1 2 1 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 1 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 0 2
Precision Medicine Center, Zhengzhou University 1 0 1 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 1
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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