ClinVar Miner

Variants studied for Argininosuccinate lyase deficiency

Coded as:
Minimum submission review status: Collection method:
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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
127 147 153 427 37 3 790

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ASL 125 146 152 420 36 3 778
ASL, LOC129998526 1 0 0 7 1 0 9
ASL, CRCP, KCTD7, RABGEF1, SBDS, TMEM248, TPST1 0 1 0 0 0 0 1
ASL, GUSB 1 0 0 0 0 0 1
ASL, LOC129998525 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 109 57 76 420 26 0 688
Baylor Genetics 47 38 1 0 0 0 86
Natera, Inc. 24 6 29 13 8 0 80
Counsyl 6 25 27 1 0 0 59
Illumina Laboratory Services, Illumina 3 2 28 5 8 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 10 0 0 0 0 34
Myriad Genetics, Inc. 4 20 1 0 0 0 25
Genome-Nilou Lab 0 2 6 0 9 0 17
Fulgent Genetics, Fulgent Genetics 10 2 3 1 0 0 16
Revvity Omics, Revvity 4 7 3 0 0 0 14
SNPedia 11 0 0 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 3 2 0 0 0 8
OMIM 7 0 0 0 0 0 7
Mendelics 2 1 0 1 0 0 4
GeneReviews 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 1 0 0 0 2
DASA 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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