ClinVar Miner

Variants studied for constitutional anemia due to iron metabolism disorder

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
81 5 159 47 39 317

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CP 55 4 54 14 11 127
TMPRSS6 15 0 31 14 8 68
SLC11A2 5 0 45 2 10 61
TF 4 1 23 9 5 42
CP, HPS3 0 0 6 8 5 17
ARHGAP4, ATP6AP1, AVPR2, DNASE1L1, EMD, FLNA, GDI1, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAZ, TEX28, TKTL1, TMEM187 1 0 0 0 0 1
STEAP3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 144 42 29 215
GeneReviews 43 0 0 0 0 43
Invitae 10 0 18 3 10 41
OMIM 28 0 0 0 0 28
Dept of Medicine and Surgery, University of Milano-Bicocca 5 1 0 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 3 1 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
GenePathDx,Causeway Health Care Private Ltd 0 1 0 1 0 2
Hemoglobin and Genome Lab,University of Campinas 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.