ClinVar Miner

Variants studied for thrombophilia due to protein C deficiency, autosomal recessive

Included ClinVar conditions (2):
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
19 7 17 2 5 49

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PROC 19 7 17 2 5 49

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 4 4 15 2 2 27
OMIM 12 0 0 0 0 12
Genome-Nilou Lab 0 0 0 0 3 3
Baylor Genetics 0 1 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1

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