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 not provided total
38 3 14 0 2 5 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 not provided total
HBB, LOC106099062, LOC107133510 27 0 8 2 3 35
HBB, LOC107133510, LOC110006319 10 3 6 0 2 17
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Baylor Genetics 38 1 1 0 0 40
Illumina Laboratory Services, Illumina 2 0 13 2 0 17
GeneReviews 0 0 0 0 5 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
New York Genome Center 2 0 0 0 0 2
Genome-Nilou Lab 0 1 1 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 0 0 0 2
OMIM 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
3billion 1 0 0 0 0 1
H3Africa Consortium 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 1

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