ClinVar Miner

Variants in gene ADSL

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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 not provided total
60 45 533 210 57 3 834

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Adenylosuccinate lyase deficiency 55 29 501 181 31 3 772
not provided 15 19 68 19 26 0 142
not specified 0 0 6 30 13 0 45
Inborn genetic diseases 2 1 12 0 0 0 15
ADSL-related condition 2 0 0 6 0 0 8
Generalized myoclonic seizure; Progressive neurologic deterioration; Inability to walk; Difficulty standing; Severe global developmental delay 2 0 0 0 0 0 2
Intellectual disability 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 46 16 475 182 31 0 750
GeneDx 14 16 52 37 36 0 155
Eurofins Ntd Llc (ga) 2 0 23 2 2 0 29
Illumina Laboratory Services, Illumina 1 1 22 0 4 0 28
Ambry Genetics 2 1 12 0 0 0 15
Fulgent Genetics, Fulgent Genetics 5 0 6 1 0 0 12
Revvity Omics, Revvity 4 4 3 0 0 0 11
PreventionGenetics, part of Exact Sciences 2 0 0 7 2 0 11
Athena Diagnostics Inc 2 0 2 1 5 0 10
Baylor Genetics 2 1 6 0 0 0 9
OMIM 8 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 3 1 1 3 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 0 0 0 7
Mendelics 3 3 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 1 1 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 1 0 1 0 4
CeGaT Center for Human Genetics Tuebingen 2 0 1 0 1 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Clinical Genetics, Academic Medical Center 0 0 0 1 2 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 1 1 0 0 0 0 2
3billion 0 1 1 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Molecular Genetics Laboratory, Edith Wolfson Medical Center 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 1 0 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 1

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