ClinVar Miner

Variants in gene ADSL

Minimum submission review status: Collection method:
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Gene type:
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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 total
30 19 158 65 25 259

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Adenylosuccinate lyase deficiency 21 9 121 19 8 169
not provided 15 10 59 19 13 113
not specified 0 0 6 32 13 48
Generalized myoclonic seizures; Progressive neurologic deterioration; Inability to walk; Difficulty standing; Severe global developmental delay 2 0 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 2
Global developmental delay; Seizures; Short stature; Failure to thrive; Microcephaly; Decreased body weight 1 0 0 0 0 1
Intellectual disability 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 4 98 31 8 152
GeneDx 14 8 46 33 23 124
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 23 2 2 29
Illumina Clinical Services Laboratory,Illumina 1 1 23 0 4 29
Athena Diagnostics Inc 2 0 2 1 5 10
OMIM 8 0 0 0 0 8
Genetic Services Laboratory,University of Chicago 2 1 0 3 0 6
Fulgent Genetics,Fulgent Genetics 4 0 2 0 0 6
Mendelics 1 3 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 1 0 1 4
PreventionGenetics,PreventionGenetics 0 0 0 1 2 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Baylor Genetics 1 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 0 0 2
Ambry Genetics 0 1 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Clinical Genomics Program,Stanford Medicine 0 0 1 0 0 1

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