ClinVar Miner

Variants in gene ARSL

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
27 28 120 244 89 7 463

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Chondrodysplasia punctata, brachytelephalangic, autosomal 8 8 67 182 39 0 303
not provided 8 11 32 38 64 0 149
X-linked chondrodysplasia punctata 1 15 12 16 3 16 7 58
Inborn genetic diseases 1 0 15 21 0 0 37
not specified 0 0 5 4 14 0 23
Connective tissue disorder 0 0 5 5 5 0 15
ARSL-related disorder 0 0 3 5 5 0 13
See cases 0 2 0 1 1 0 4
Coffin-Siris syndrome 1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 9 7 67 183 39 0 305
GeneDx 7 10 25 29 59 0 130
Ambry Genetics 1 0 15 21 0 0 37
Breakthrough Genomics, Breakthrough Genomics 0 0 0 6 25 0 31
PreventionGenetics, part of Exact Sciences 0 0 3 5 12 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 13 0 16
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 5 5 5 0 15
Genetic Services Laboratory, University of Chicago 0 1 2 0 10 0 13
CeGaT Center for Human Genetics Tuebingen 0 1 4 6 0 0 11
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
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 3 0 0 0 6
Revvity Omics, Revvity 0 2 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 1 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 3 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Blueprint Genetics 0 0 2 0 0 0 2
ISCA Site 6 0 0 0 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 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
Eurofins Ntd Llc (ga) 0 0 1 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 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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