ClinVar Miner

Variants studied for campomelic dysplasia

Included ClinVar conditions (1):
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
55 25 111 105 37 2 321

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOX9 42 19 93 83 29 2 254
LOC108021846, SOX9 12 5 18 22 8 0 65
FRS3, MDFI, PGC, TFEB 0 1 0 0 0 0 1
KCNJ2, SOX9 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 7 95 103 34 0 273
Illumina Laboratory Services, Illumina 0 1 9 1 1 0 12
Revvity Omics, Revvity 1 2 5 0 0 0 8
OMIM 6 0 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 0 0 0 4
Krakow/Cohn Lab, University of California, Los Angeles 4 0 0 0 0 0 4
Baylor Genetics 1 2 0 0 0 0 3
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kahle Lab, Yale University 0 1 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
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 1 0 0 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 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
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 1 0 0 0 0 0 1

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