ClinVar Miner

Variants studied for Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly

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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 risk factor total
12 7 57 8 11 6 97

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
CD46 12 7 55 7 10 6 93
CD46, LOC129932405 0 0 2 1 1 0 4

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Laboratory Services, Illumina 0 0 44 6 10 0 60
Fulgent Genetics, Fulgent Genetics 1 1 3 4 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 6 1 1 0 0 0 8
MVZ Medizinische Genetik Mainz 3 0 4 0 0 0 7
OMIM 0 0 0 0 0 6 6
Johns Hopkins Genomics, Johns Hopkins University 1 1 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 2
3billion 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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