ClinVar Miner

Variants in gene ASL

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 total
53 48 90 72 24 242

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Argininosuccinate lyase deficiency 51 42 79 38 19 198
not provided 14 8 13 20 3 55
not specified 0 0 0 23 8 28

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 33 18 23 49 12 135
Counsyl 8 25 30 1 0 64
GeneDx 11 6 0 22 7 46
Illumina Clinical Services Laboratory,Illumina 2 1 28 5 8 44
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 2 10 0 5 26
Integrated Genetics/Laboratory Corporation of America 11 0 0 0 2 13
SNPedia 11 0 0 0 0 11
OMIM 6 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 2 0 5
Baylor Genetics 2 2 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 0 0 1 0 3
PreventionGenetics,PreventionGenetics 0 0 0 0 3 3
Mendelics 2 0 0 1 0 3
GeneReviews 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 1 0 3
Myriad Women's Health, Inc. 2 1 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 1

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