ClinVar Miner

Variants studied for blood protein disease

Included ClinVar conditions (5):
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
24 19 70 10 10 1 122

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
PROS1 19 19 69 10 10 1 116
TNFRSF13B 4 0 1 0 0 0 5
ARL13B, PROS1, STX19 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 1 0 34 6 0 0 41
Invitae 5 2 17 3 10 0 37
NIHR Bioresource Rare Diseases, University of Cambridge 4 17 11 0 0 0 32
OMIM 14 0 0 0 0 0 14
CSER_CC_NCGL; University of Washington Medical Center 0 1 11 1 0 0 13
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Russ Altman Lab,Stanford University 0 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1

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