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
24 12 97 42 15 162

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 15 9 58 1 2 84
Adenylosuccinate lyase deficiency 14 4 52 13 8 82
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

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 14 8 46 27 13 108
Invitae 4 1 35 10 8 58
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 23 2 2 29
Illumina Clinical Services Laboratory,Illumina 1 1 12 3 0 17
Athena Diagnostics Inc 2 0 2 1 4 9
OMIM 8 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 2 1 0 3 0 6
Fulgent Genetics 4 0 2 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 1 0 1 4
PreventionGenetics 0 0 0 1 2 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Mendelics 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1

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