ClinVar Miner

Variants in gene F11

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
34 76 71 12 9 41 204

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary factor XI deficiency disease 29 73 69 10 6 0 167
not provided 11 6 5 0 0 41 60
not specified 0 0 0 2 5 0 7
Abnormal bleeding 3 0 1 0 0 0 4
Coagulation factor deficiency syndrome 0 1 0 0 0 0 1
Factor X deficiency 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 4 56 33 2 0 0 95
NIHR Bioresource Rare Diseases, University of Cambridge 12 19 14 0 0 0 45
Illumina Clinical Services Laboratory,Illumina 4 1 24 9 6 0 44
UniProtKB/Swiss-Prot 0 0 0 0 0 41 41
OMIM 16 0 0 0 0 0 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 1 2 1 0 0 10
Invitae 6 3 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 6 2 0 0 0 0 8
GeneDx 3 2 2 0 0 0 7
PreventionGenetics 0 0 0 1 5 0 6
Lineagen Inc. 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1

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