ClinVar Miner

Variants studied for asphyxiating thoracic dystrophy 3

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
193 148 860 537 187 1 1793

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DYNC2H1 110 117 262 31 66 0 493
WDR35 25 11 249 159 54 0 472
DYNC2I1 18 8 144 169 41 1 374
DYNC2I2 23 7 127 125 17 0 295
DYNC2I2, LOC126860772 10 2 70 47 7 0 133
LOC129933186, WDR35 0 0 4 2 1 0 7
DYNC2I1, LOC129999765 0 0 1 4 0 0 5
DYNC1H1 0 1 1 0 0 0 2
DYNC2I2, LOC126860772, SPTAN1 1 0 1 0 0 0 2
DYNC2I2, SPTAN1 1 0 1 0 0 0 2
NEK1 2 0 0 0 0 0 2
BBS10 1 0 0 0 0 0 1
DYNLT2B 1 0 0 0 0 0 1
FAM98C 0 1 0 0 0 0 1
KIF24 1 0 0 0 0 0 1
MATN3, WDR35 0 0 0 0 1 0 1
TMEM256, TMEM256-PLSCR3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 11 495 490 96 0 1151
Illumina Laboratory Services, Illumina 0 0 290 27 80 0 397
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 3 32 18 39 0 95
University of Washington Center for Mendelian Genomics, University of Washington 0 82 0 0 0 0 82
Dan Cohn Lab, University Of California Los Angeles 74 2 2 0 0 0 78
OMIM 37 0 0 0 0 0 37
Revvity Omics, Revvity 6 7 23 1 0 0 37
Genome-Nilou Lab 0 0 0 0 35 0 35
Fulgent Genetics, Fulgent Genetics 0 2 12 8 1 0 23
Baylor Genetics 5 2 12 0 0 0 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 6 5 0 0 0 12
Mendelics 1 2 1 0 5 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 4 4 0 0 0 9
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 4 5 0 0 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 1 3 0 0 0 9
3billion 0 3 5 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 3 1 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 2 1 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 2 1 1 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 1 3 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 1 2 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
Care4Rare-SOLVE, CHEO 0 2 0 0 0 0 2
Department Of Medical Genetics, Faculty Of Medicine, Ege University 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 0 2 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 0 2
Precision Medical Center, Maternal and Child Health Hospital of Hubei Province 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Cormier-Daire Lab, IMAGINE 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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