ClinVar Miner

Variants studied for bent bone dysplasia

Included ClinVar conditions (16):
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
104 63 497 177 102 2 902

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LIFR 20 34 290 47 64 0 429
SOX9 46 19 93 83 29 2 257
FGFR2 12 3 79 23 1 0 116
LOC108021846, SOX9 15 6 19 22 8 0 70
TRPV4 3 0 14 2 0 0 19
LAMA5 2 0 1 0 0 0 3
CCN2 2 0 0 0 0 0 2
CASC17, LOC108004545, LOC108004546, LOC108021839, LOC108021840, LOC110121373, LOC126862627, LOC126862628, LOC131477896, REVSEX, SOX9, SOX9CRE1 1 0 0 0 0 0 1
CCNO-DT, IL6ST 1 0 0 0 0 0 1
FRS3, MDFI, PGC, TFEB 0 1 0 0 0 0 1
HSPG2 0 0 1 0 0 0 1
IL6ST 1 0 0 0 0 0 1
KCNJ2, SOX9 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 15 27 208 32 2 0 283
Labcorp Genetics (formerly Invitae), Labcorp 34 7 95 103 34 0 273
Illumina Laboratory Services, Illumina 0 1 169 14 41 0 225
Natera, Inc. 3 2 17 20 17 0 59
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 10 18 0 36
OMIM 28 0 0 0 0 0 28
Revvity Omics, Revvity 4 4 6 0 0 0 14
Genome-Nilou Lab 0 0 0 0 11 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 8 0 0 0 9
Baylor Genetics 2 2 2 0 0 0 6
3billion 2 1 2 1 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 1 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Krakow/Cohn Lab, University of California, Los Angeles 4 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Kahle Lab, Yale University 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 0 0 0 0 0 1

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