ClinVar Miner

Variants studied for X-linked chondrodysplasia punctata 1

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
14 10 10 2 15 7 49

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARSL 13 10 10 2 15 7 48
ARSD, ARSL 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 10 0 12
OMIM 8 0 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
GeneReviews 0 0 0 0 0 6 6
Revvity Omics, Revvity 0 2 2 0 0 0 4
Invitae 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 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
3billion 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 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
Genomic Medicine Lab, University of California San Francisco 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

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