ClinVar Miner

Variants in gene CFHR1

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 total
0 2 55 16 47 113

Condition and significance breakdown #

Total conditions: 6
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Condition likely pathogenic uncertain significance likely benign benign total
not provided 2 15 10 45 70
not specified 0 36 6 6 46
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 4 0 0 4
Chronic kidney disease 0 3 0 0 3
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1 0 2 0 0 2
Kidney disorder 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter likely pathogenic uncertain significance likely benign benign total
GeneDx 0 0 0 44 44
Breakthrough Genomics, Breakthrough Genomics 0 1 1 31 33
Ambry Genetics 0 28 1 0 29
Mayo Clinic Laboratories, Mayo Clinic 2 13 0 0 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 7 4 1 12
CeGaT Center for Human Genetics Tuebingen 0 1 9 1 11
Genetic Services Laboratory, University of Chicago 0 1 1 2 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 3 3
Cavalleri Lab, Royal College of Surgeons in Ireland 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 0 2 0 0 2
Baylor Genetics 0 1 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 1

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