ClinVar Miner

Variants in gene BUB1B

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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
27 4 212 83 22 9 20 347

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Mosaic variegated aneuploidy syndrome 3 0 160 21 14 0 0 198
Mosaic variegated aneuploidy syndrome 1 23 2 47 41 3 0 0 114
not provided 0 1 5 27 0 0 0 33
not specified 0 0 0 2 11 0 20 29
Premature chromatid separation trait 0 1 1 0 0 9 0 11
Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Carcinoma of colon 0 0 7 0 0 0 0 7
Carcinoma of colon 1 0 0 0 0 0 0 1
Colorectal cancer 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 16 2 202 80 14 0 0 314
ITMI 0 0 0 0 0 0 20 20
OMIM 10 0 0 0 0 9 0 10
PreventionGenetics, PreventionGenetics 0 0 0 0 9 0 0 9
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 0 7
Baylor Genetics 0 1 5 0 0 0 0 6
Mendelics 0 0 0 2 3 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 1 1 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1

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