ClinVar Miner

Variants in gene ASS1

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 not provided total
79 81 135 116 34 1 362

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Citrullinemia type I 57 63 100 28 23 1 221
Citrullinemia 44 18 30 70 2 0 164
not provided 17 9 15 13 5 0 56
not specified 0 1 2 33 15 0 48
Citrullinemia, mild 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 51 19 59 88 11 0 228
Counsyl 2 43 21 2 0 0 68
Illumina Clinical Services Laboratory,Illumina 1 1 52 2 9 0 65
GeneDx 8 7 1 29 14 0 59
Baylor Genetics 30 9 0 0 0 0 39
Natera, Inc. 9 1 13 10 6 0 39
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 12 0 12 1 7 0 32
Integrated Genetics/Laboratory Corporation of America 12 4 2 5 0 0 23
OMIM 19 0 0 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 5 1 0 10 0 18
PreventionGenetics, PreventionGenetics 0 0 0 4 10 0 14
GeneReviews 12 0 0 0 0 0 12
Fulgent Genetics,Fulgent Genetics 5 1 1 0 0 0 7
Genetic Services Laboratory, University of Chicago 0 2 0 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 3
Mendelics 0 0 0 1 1 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 0 2
Myriad Women's Health, Inc. 1 1 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1

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