ClinVar Miner

Variants studied for acquired aplastic anemia

Included ClinVar conditions (21):
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 not provided total
73 13 108 20 38 3 2 222

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
TERT 21 4 51 17 36 0 2 97
NBN 3 1 24 0 0 0 0 28
TERC 20 1 0 0 0 0 0 21
IFNG 0 0 15 2 2 0 0 19
PIGA 10 3 1 0 0 0 0 14
PRF1 4 0 6 0 0 0 0 10
PIGT 0 0 4 0 0 3 0 7
LOC110806263, TERT 2 0 3 1 0 0 0 6
MPL 3 1 0 0 0 0 0 4
LOC110806306, TERC 2 0 1 0 0 0 0 3
SBDS 2 0 0 0 0 0 0 2
SH2B3 1 0 1 0 0 0 0 2
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 1
DDX41 0 0 1 0 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 1
INSL6, JAK2 1 1 0 0 0 0 0 1
LOC110806306 1 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 0 1
SRC 0 1 0 0 0 0 0 1
TINF2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 59 20 38 0 0 90
OMIM 42 0 0 0 0 1 0 43
Fulgent Genetics,Fulgent Genetics 5 1 26 0 0 0 0 32
GeneReviews 25 0 0 0 0 0 0 25
Baylor Genetics 3 1 10 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 7 0 0 0 0 9
Degerman lab,Umeå University 5 2 1 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 0 3 2 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 0 2 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 2 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Bone Marrow Failure laboratory,Queen Mary University London 0 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Gastroenterology Department,Qilu Hospital of Shandong University 0 0 1 0 0 0 0 1

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