ClinVar Miner

Variants studied for Hb SS disease

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 total
39 2 13 0 2 53

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
HBB, LOC106099062, LOC107133510 28 0 7 2 35
HBB, LOC107133510, LOC110006319 10 2 6 0 17
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance benign total
Baylor Genetics 39 1 0 0 40
Illumina Clinical Services Laboratory,Illumina 1 0 13 2 16
GeneReviews 5 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 1 0 0 2
OMIM 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 1

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