ClinVar Miner

Variants in gene CUBN

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 not provided total
15 40 234 41 51 2 356

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Megaloblastic anemia 0 0 172 34 22 0 228
Megaloblastic anemia due to inborn errors of metabolism 8 37 40 4 19 2 107
not provided 3 3 29 1 8 0 44
not specified 1 0 8 3 8 0 20
Megaloblastic anemia 1, Finnish type 3 0 0 0 0 0 3
See cases 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 180 34 22 0 236
Invitae 5 1 22 4 19 0 51
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 28 0 0 0 0 28
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 12 0 12 0 25
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 7 7 0 0 0 16
GeneDx 1 1 10 1 1 0 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 6 3 0 0 12
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 1 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 0 2 2 0 0 0 4
OMIM 3 0 0 0 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1 0 2
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 0 1

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