ClinVar Miner

Variants in gene ARSA

Minimum submission review status: Collection method:
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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
94 83 161 54 36 3 60 396

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Metachromatic leukodystrophy 62 79 140 36 33 1 0 310
not provided 35 7 26 16 8 3 60 144
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, late infantile 6 0 0 0 0 0 0 6
Arylsulfatase A pseudodeficiency 5 0 0 0 0 0 0 5
Metachromatic leukodystrophy, juvenile type 5 0 0 0 0 0 0 5
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
Inborn genetic diseases 1 0 0 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: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Illumina Clinical Services Laboratory,Illumina 3 1 95 8 24 0 0 131
Invitae 35 6 19 41 11 1 0 113
Counsyl 8 69 25 0 0 0 0 102
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
GeneDx 14 4 1 2 2 0 0 23
GeneReviews 13 0 0 0 2 0 0 15
Integrated Genetics/Laboratory Corporation of America 8 2 1 0 1 0 0 12
Mayo Clinic Genetic Testing 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 0 0 0 0 10
Fulgent Genetics,Fulgent Genetics 5 1 3 0 0 0 0 9
Neurometabolisches Labor,University hospital Tuebingen 7 0 0 0 1 0 0 8
Baylor Genetics 5 1 0 0 0 0 0 6
Myriad Women's Health, Inc. 4 2 0 0 0 0 0 6
Athena Diagnostics Inc 2 0 0 0 3 0 0 5
Mendelics 2 0 0 1 2 0 0 5
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
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 1 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 0 1
Ambry Genetics 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 1

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