ClinVar Miner

Variants studied for beta-thalassemia HBB/LCRB

Included ClinVar conditions (5):
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
278 41 34 13 27 2 349

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HBB, LOC106099062, LOC107133510 201 29 22 6 11 1 240
HBB, LOC107133510, LOC110006319 55 9 11 7 16 0 85
HBB, LOC106099062, LOC107133510, LOC110006319 15 3 1 0 0 0 16
HBB 6 0 0 0 0 0 6
HBB, HBB-LCR 1 0 0 0 0 0 1
LOC106099062, LOC107133510 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 241 0 0 0 17 0 258
Integrated Genetics/Laboratory Corporation of America 66 12 4 5 1 0 88
GeneReviews 42 0 0 0 0 0 42
Counsyl 18 21 1 1 0 0 41
Natera, Inc. 7 1 13 4 7 0 32
Myriad Women's Health, Inc. 21 6 0 0 0 0 27
Illumina Clinical Services Laboratory,Illumina 1 1 15 1 1 0 19
Mendelics 4 0 1 1 5 0 11
Fulgent Genetics,Fulgent Genetics 10 1 0 0 0 0 11
Baylor Genetics 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 0 0 0 0 0 5
College of Science, Al Muthanna University,Al Muthanna University 1 0 0 0 4 0 5
Centogene AG - the Rare Disease Company 4 0 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 1 0 0 3
Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases,The First People’s Hospital of Yunnan Province 1 0 0 0 2 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
Core Molecular Diagnostic Lab, McGill University Health Centre 1 1 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Pediatric Molecular Hematology,Schneider Children's Medical Center of Israel 1 0 0 0 0 0 1
Medical Biology Lab, Gaziantep University 0 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Bodamer Research Lab,Boston Children's Hospital 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Hb Lab, Kinderklinik Ulm,University Hospital Ulm 1 0 0 0 0 0 1
Genetic Services Unit,National Institute of Biomedical Genomics 1 0 0 0 0 0 1
Nilou-Genome Lab 1 0 0 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.