ClinVar Miner

Variants in gene CUBN

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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
22 47 318 91 125 4 2 558

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Imerslund-Gräsbeck syndrome 1 5 0 219 34 78 0 0 336
Megaloblastic anemia due to inborn errors of metabolism 11 44 87 28 72 0 2 236
not provided 4 3 29 35 18 0 0 89
not specified 1 0 8 3 4 0 0 16
Megaloblastic anemia 0 0 6 0 0 0 0 6
PROTEINURIA, CHRONIC BENIGN 0 0 0 0 0 4 0 4
Megaloblastic anemia 1, Finnish type 1 0 0 0 0 0 0 1
See cases 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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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 8 2 63 62 70 0 0 205
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 13 0 17 0 0 31
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 0 0 2 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 1 0 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
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
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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