ClinVar Miner

Variants studied for constitutional anemia due to iron metabolism disorder

Included ClinVar conditions (7):
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
86 10 265 61 101 498

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 58 5 98 28 26 195
TMPRSS6 17 2 60 9 32 118
SLC11A2 5 1 61 5 22 93
TF 4 2 34 10 15 65
CP, HPS3 0 0 12 9 6 25
ARHGAP4, ATP6AP1, AVPR2, DNASE1L1, EMD, FLNA, GDI1, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 0 0 0 1
STEAP3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 220 44 88 352
Invitae 14 1 54 17 20 106
GeneReviews 43 0 0 0 0 43
OMIM 28 0 0 0 0 28
Dept of Medicine and Surgery, University of Milano-Bicocca 7 1 0 0 0 8
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
Baylor Genetics 0 0 2 0 0 2
Mendelics 1 0 0 1 0 2
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 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
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 1
Biochemistry Laboratory,Bechir Hamza Children's Hospital 0 1 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.