ClinVar Miner

Variants in gene LAMB2

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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
17 6 150 32 25 206

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2 0 89 12 20 123
Pierson syndrome 7 1 54 8 0 70
Nephrotic syndrome 0 0 54 8 0 62
not specified 0 0 4 12 14 29
not provided 2 3 9 1 4 19
Nephrotic syndrome, type 5, with or without ocular abnormalities 7 2 1 0 0 10
Focal segmental glomerulosclerosis 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 0 89 12 20 123
Illumina Clinical Services Laboratory,Illumina 0 0 54 8 0 62
PreventionGenetics 0 0 0 7 14 21
OMIM 11 0 0 0 0 11
Athena Diagnostics Inc 0 1 2 4 4 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 2 1 5
GeneDx 2 0 2 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
Blueprint Genetics 1 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1

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