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
62 59 100 122 24 308

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Argininosuccinate lyase deficiency 61 52 92 95 19 272
not provided 14 9 13 21 3 57
not specified 0 0 0 23 8 28
Neurodevelopmental disorder 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 42 20 29 99 12 202
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
Natera, Inc. 9 1 11 2 2 25
Integrated Genetics/Laboratory Corporation of America 12 0 0 0 2 14
SNPedia 11 0 0 0 0 11
Baylor Genetics 5 3 1 0 0 9
Myriad Women's Health, Inc. 2 7 0 0 0 9
OMIM 6 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 1 2 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 2 0 5
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
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 1 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 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
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 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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