ClinVar Miner

Variants in gene ARSA

Minimum submission review status: Collection method:
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Gene type:
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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 other not provided total
135 102 192 100 39 3 62 502

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Metachromatic leukodystrophy 112 97 170 89 37 1 2 429
not provided 36 8 26 18 9 3 60 149
not specified 0 0 1 3 12 0 0 15
Metachromatic leukodystrophy, severe 9 0 0 0 0 0 0 9
Metachromatic leukodystrophy, adult type 7 0 0 0 0 0 0 7
Metachromatic leukodystrophy, juvenile type 5 0 1 0 0 0 0 6
Metachromatic leukodystrophy, late infantile 6 0 0 0 0 0 0 6
Arylsulfatase A pseudodeficiency 5 0 0 0 0 0 0 5
Inborn genetic diseases 4 0 1 0 0 0 0 5
Intellectual disability 0 0 3 0 0 0 0 3
Citrullinemia 0 0 0 0 2 0 0 2
Metachromatic leukodystrophy, mild 2 0 0 0 0 0 0 2
ARYLSULFATASE A POLYMORPHISM 0 0 0 0 1 0 0 1
Arylsulfatase a pseudodeficiency, intermediate 1 0 0 0 0 0 0 1
Arylsulfatase a pseudodeficiency, severe 1 0 0 0 0 0 0 1
Arylsulfatase a, allele a 1 0 0 0 0 0 0 1
Autosomal recessive sideroblastic anemia 0 0 1 0 0 0 0 1
Frontotemporal dementia 0 0 1 0 0 0 0 1
Leukodystrophy 1 0 0 0 0 0 0 1
Metachromatic leukodystrophy, late-onset 1 0 0 0 0 0 0 1
Pseudoarylsulfatase A deficiency 0 0 1 0 0 0 0 1
See cases 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 68 15 36 87 12 1 0 219
Illumina Clinical Services Laboratory,Illumina 3 1 95 8 24 0 0 131
Counsyl 5 67 25 0 0 0 0 97
UniProtKB/Swiss-Prot 0 0 0 0 0 0 60 60
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 24 2 21 0 9 3 0 59
OMIM 45 0 0 0 1 0 0 46
Natera, Inc. 8 0 14 8 11 0 0 41
Integrated Genetics/Laboratory Corporation of America 22 7 1 0 2 0 0 32
GeneDx 14 4 1 2 2 0 0 23
GeneReviews 13 0 0 0 2 0 0 15
Baylor Genetics 7 2 3 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 2 0 2 3 5 0 0 12
PreventionGenetics, PreventionGenetics 0 0 0 2 9 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 6 1 3 1 0 0 0 11
Medical Molecular Genetics Department, National Research Center 5 5 0 0 0 0 0 10
Amsterdam Leukodystrophy Center,Amsterdam UMC 9 1 0 0 0 0 0 10
Fulgent Genetics,Fulgent Genetics 5 1 3 0 0 0 0 9
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 1 2 6 0 0 0 0 9
Neurometabolisches Labor,University hospital Tuebingen 7 0 0 0 1 0 0 8
Athena Diagnostics Inc 3 0 0 0 3 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 0 0 0 0 0 0 6
Myriad Women's Health, Inc. 4 2 0 0 0 0 0 6
Ambry Genetics 4 0 1 0 0 0 0 5
Mendelics 2 0 0 1 2 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 0 0 0 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 1 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 2 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 3 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 4 0 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
ISCA site 6 0 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Faculty of Medicine Siriraj Hospital,Mahidol University 1 0 0 0 0 0 0 1
Gene Mapping Laboratory,Hacettepe University 1 0 0 0 0 0 0 1

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