ClinVar Miner

Variants in gene CUBN

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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 affects not provided total
88 147 1219 744 313 4 3 2271

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Imerslund-Grasbeck syndrome 60 60 488 477 143 0 3 1218
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 15 79 517 51 2 0 0 663
not provided 14 15 137 188 231 0 0 560
Imerslund-Grasbeck syndrome type 1 14 5 229 34 82 0 0 363
Inborn genetic diseases 3 0 296 51 0 0 0 350
CUBN-related disorder 7 8 24 99 14 0 0 152
Proteinuria, chronic benign 6 9 8 0 0 4 0 24
not specified 1 0 9 3 6 0 0 19
Megaloblastic anemia 0 0 6 0 0 0 0 6
See cases 0 1 0 0 3 0 0 4
Autism spectrum disorder 0 1 0 0 0 0 0 1
Chronic kidney disease 1 0 0 0 0 0 0 1
Focal segmental glomerulosclerosis 0 0 1 0 0 0 0 1
Proteinuria 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 59 20 475 488 141 0 0 1183
Fulgent Genetics, Fulgent Genetics 15 76 515 51 2 0 0 659
GeneDx 6 7 66 127 213 0 0 419
Ambry Genetics 3 0 296 51 0 0 0 350
Illumina Laboratory Services, Illumina 0 0 223 34 76 0 0 333
Breakthrough Genomics, Breakthrough Genomics 0 0 13 60 95 0 0 168
PreventionGenetics, part of Exact Sciences 7 8 24 99 14 0 0 152
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 19 9 30 0 0 61
CeGaT Center for Human Genetics Tuebingen 0 2 17 31 2 0 0 52
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 27 0 0 0 0 0 27
Mayo Clinic Laboratories, Mayo Clinic 0 1 25 0 0 0 0 26
Genome-Nilou Lab 0 0 0 0 25 0 0 25
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 9 11 0 0 0 0 23
Revvity Omics, Revvity 7 3 9 0 0 0 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 6 4 0 0 12
Eurofins Ntd Llc (ga) 2 0 6 3 0 0 0 11
OMIM 6 0 0 0 0 4 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 5 0 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 3 0 0 9
MVZ Medizinische Genetik Mainz 5 1 2 0 0 0 0 8
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 0 7
3billion 1 2 4 0 0 0 0 7
Baylor Genetics 0 0 6 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 1 0 2 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 3 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 0 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 2 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 1 3 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 2 1 0 0 0 0 3
Eurofins-Biomnis 0 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 2 0 0 3
Athena Diagnostics 0 0 2 0 0 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 1 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 0 2
Mendelics 0 0 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 1
Department of Pediatric Nephrology, Wuhan Children's Hospital 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 1
Gene Friend Way, National Innovation Center 0 1 0 0 0 0 0 1

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