ClinVar Miner

Variants studied for congenital factor V deficiency

Included ClinVar conditions (4):
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 risk factor total
13 14 156 41 60 1 264

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
F5 13 14 155 41 60 1 263
LMAN1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 1 1 140 15 45 0 202
Invitae 1 0 4 25 22 0 52
NIHR Bioresource Rare Diseases, University of Cambridge 1 11 5 0 0 0 17
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 1 1 8 1 0 0 11
OMIM 9 0 0 0 0 0 9
Baylor Genetics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1 2
Mendelics 0 0 1 1 0 0 2
Natera, Inc. 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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