ClinVar Miner

Variants studied for Aplastic anemia

Coded as:
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 not provided total
89 143 191 16 15 14 462

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NBN 27 97 118 0 0 0 242
TERT 0 0 44 13 13 13 78
PRF1 39 26 6 0 0 0 71
SBDS 10 16 0 0 0 0 25
IFNG 0 0 15 2 2 0 19
LOC110806306, TERC 10 0 0 0 0 0 10
LOC126860438, NBN 1 4 5 0 0 0 10
LOC110806263, TERT 0 0 1 1 0 0 2
TERC 2 0 0 0 0 0 2
DDX41 0 0 1 0 0 0 1
FANCM 0 0 1 0 0 0 1
TINF2 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 74 142 130 0 0 0 346
Illumina Laboratory Services, Illumina 0 0 59 16 15 0 90
GeneReviews 12 0 0 0 0 12 24
OMIM 3 0 0 0 0 0 3
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Bone Marrow Failure laboratory, Queen Mary University London 0 0 1 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 0 0 0 0 1

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