ClinVar Miner

Variants studied for non-rhizomelic chondrodysplasia punctata

Included ClinVar conditions (4):
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
51 36 71 178 45 7 371

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARSL 20 18 63 176 44 7 312
EBP 29 18 7 2 1 0 56
ARSD, ARSL 2 0 1 0 0 0 3

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 7 54 174 39 0 284
Genetic Services Laboratory, University of Chicago 15 16 3 0 0 0 34
OMIM 18 0 0 0 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 10 0 12
Genome-Nilou Lab 0 0 0 0 9 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 3 0 0 0 7
GeneReviews 0 0 0 0 0 6 6
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 0 5
Revvity Omics, Revvity 0 2 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 0 0 0 0 4
Mendelics 2 0 1 0 0 0 3
3billion 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Christian Medical College, Vellore 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Hunan Provincial Maternal and Child Health Care Hospital 0 1 0 0 0 0 1

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