ClinVar Miner

Variants studied for congenital vitamin K-dependent coagulation factors deficiency

Included ClinVar conditions (6):
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 total
48 35 290 47 59 470

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GGCX 4 2 129 16 29 180
F7 25 22 70 7 6 128
F10 15 6 41 3 5 68
F2 3 4 31 6 11 50
VKORC1 1 0 13 4 5 23
F10, F7 0 0 0 10 2 12
GGCX, MAT2A 0 0 6 1 1 8
F11 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 3 1 264 41 58 367
OMIM 42 0 0 0 0 42
NIHR Bioresource Rare Diseases, University of Cambridge 2 22 9 0 0 33
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 3 6 16 2 0 27
Invitae 1 0 0 4 4 9
Baylor Genetics 0 2 2 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1

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