ClinVar Miner

Variants in gene ASL

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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
137 192 214 458 49 3 892

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Argininosuccinate lyase deficiency 134 180 160 431 36 3 819
not provided 17 22 24 31 28 0 115
not specified 0 0 38 16 9 0 60
Inborn genetic diseases 3 0 24 1 0 0 28
ASL-related disorder 5 0 3 4 0 0 12
Neurodevelopmental disorder 1 2 0 0 0 0 3
Autism 0 0 1 0 0 0 1
Congenital myasthenic syndrome 4C 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 114 58 80 425 26 0 703
Baylor Genetics 49 46 1 0 0 0 96
GeneDx 11 15 8 34 28 0 96
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 13 38 0 3 0 83
Natera, Inc. 24 6 29 13 8 0 80
Fulgent Genetics, Fulgent Genetics 24 36 4 1 0 0 65
Counsyl 6 25 27 1 0 0 59
Illumina Laboratory Services, Illumina 3 2 27 5 8 0 45
Breakthrough Genomics, Breakthrough Genomics 0 1 0 11 17 0 29
Ambry Genetics 3 0 24 1 0 0 28
Eurofins Ntd Llc (ga) 9 2 10 0 5 0 26
Myriad Genetics, Inc. 4 20 1 0 0 0 25
CeGaT Center for Human Genetics Tuebingen 8 3 3 5 2 0 21
Genome-Nilou Lab 0 2 6 0 8 0 16
PreventionGenetics, part of Exact Sciences 5 0 3 4 3 0 15
Revvity Omics, Revvity 4 7 3 0 0 0 14
SNPedia 11 0 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 5 2 0 0 0 10
OMIM 7 0 0 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 0 0 0 0 0 7
Clinical Genetics, Academic Medical Center 3 0 0 0 2 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 2 2 0 0 5
Genetic Services Laboratory, University of Chicago 2 1 0 1 0 0 4
Mendelics 2 1 0 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 2 0 2 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 2 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 2 2 0 0 0 0 4
3billion 2 0 2 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 2 0 0 0 0 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
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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 2 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 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
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 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
Daryl Scott Lab, Baylor College of Medicine 1 0 0 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 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
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 0 0 1 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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