ClinVar Miner

Variants in gene CUBN

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Minimum submission review status: Collection method:
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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
66 82 798 585 312 4 3 1671

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Imerslund-Grasbeck syndrome 51 57 482 395 140 0 3 1111
not provided 11 12 94 160 226 0 0 486
Imerslund-Grasbeck syndrome type 1 9 3 224 34 82 0 0 351
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 8 12 128 43 2 0 0 193
Inborn genetic diseases 1 0 138 14 0 0 0 153
not specified 1 0 6 3 6 0 0 16
Proteinuria, chronic benign 2 7 4 0 0 4 0 15
CUBN-related condition 1 2 9 0 0 0 0 12
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
Proteinuria 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 50 16 462 407 138 0 0 1073
GeneDx 3 3 45 127 213 0 0 391
Illumina Laboratory Services, Illumina 0 0 231 34 76 0 0 341
Fulgent Genetics, Fulgent Genetics 8 11 126 43 2 0 0 190
Ambry Genetics 1 0 138 14 0 0 0 153
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 16 5 28 0 0 52
CeGaT Center for Human Genetics Tuebingen 0 2 14 18 2 0 0 36
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 27 0 0 0 0 0 27
Genome-Nilou Lab 0 0 0 0 25 0 0 25
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 10 10 0 0 0 0 23
Revvity Omics, Revvity Omics 7 3 9 0 0 0 0 19
Preventiongenetics, part of Exact Sciences 1 2 9 0 0 0 0 12
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
Mayo Clinic Laboratories, Mayo Clinic 0 1 10 0 0 0 0 11
OMIM 6 0 0 0 0 4 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 3 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 4 0 0 0 0 7
Gharavi Laboratory, Columbia University 0 0 7 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 0 0 2 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
3billion 1 1 2 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 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 Inc 0 0 2 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 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
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
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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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