ClinVar Miner

Variants in gene CUBN

Minimum submission review status: Collection method:
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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 affects not provided total
35 51 372 106 125 4 2 632

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Imerslund-Gräsbeck syndrome 1 6 0 223 34 78 0 0 341
Imerslund-Gräsbeck syndrome 22 45 151 46 65 0 2 319
not provided 4 3 29 36 17 0 0 89
none provided 1 1 4 0 15 0 0 21
not specified 1 0 7 3 2 0 0 13
Megaloblastic anemia 0 0 6 0 0 0 0 6
Proteinuria, chronic benign 1 2 0 0 0 4 0 6
Inborn genetic diseases 1 0 1 0 0 0 0 2
See cases 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 233 34 78 0 0 345
Invitae 19 3 128 77 70 0 0 297
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 1 16 0 18 0 0 37
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 28 0 0 0 0 0 28
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 10 10 0 0 0 0 23
GeneDx 1 1 10 1 7 0 0 20
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 6 3 0 0 0 12
OMIM 6 0 0 0 0 4 0 10
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 0 7
Baylor Genetics 0 0 6 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 2 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare 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
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 1 2 0 0 0 0 0 3
Ambry Genetics 1 0 1 0 0 0 0 2
Mendelics 0 0 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus 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

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