ClinVar Miner

Variants in gene ASL

Minimum submission review status: Collection method:
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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
36 34 55 36 11 145

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Argininosuccinate lyase deficiency 32 27 45 13 7 114
not provided 14 8 12 2 0 33
not specified 0 0 0 23 7 28

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 9 26 30 1 0 66
GeneDx 11 6 0 22 4 43
Invitae 9 2 7 5 7 30
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 2 10 0 5 26
Illumina Clinical Services Laboratory,Illumina 2 1 9 7 0 19
SNPedia 11 0 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 7 0 0 0 1 8
OMIM 6 0 0 0 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 0 0 0 0 3 3
GeneReviews 3 0 0 0 0 3
Fulgent Genetics 3 0 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
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
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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