ClinVar Miner

Variants in gene ARSA

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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
78 68 117 24 19 3 60 298

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Metachromatic leukodystrophy 45 64 96 18 13 1 0 211
not provided 31 6 25 3 7 3 60 127
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
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Counsyl 8 62 25 0 0 0 0 95
Illumina Clinical Services Laboratory,Illumina 3 1 60 16 7 0 0 87
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
Invitae 10 1 10 2 3 1 0 27
GeneDx 13 3 1 1 1 0 0 19
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 0 0 0 2 9 0 0 11
Fulgent Genetics 5 1 3 0 0 0 0 9
Neurometabolisches Labor,University hospital Tuebingen 7 0 0 0 1 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 3 0 0 4
Athena Diagnostics Inc 0 0 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 1 0 0 2
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
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
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 1

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