ClinVar Miner

Variants in gene AGA

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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
64 86 169 264 48 556

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Aspartylglucosaminuria 64 85 155 243 29 510
not provided 7 3 18 27 30 78
Inborn genetic diseases 2 2 8 12 0 24
not specified 0 0 6 1 3 10
AGA-related disorder 0 0 0 4 1 5
Intellectual disability 0 0 1 3 0 4
Aspartylglucosaminuria, finnish type 1 0 0 0 0 1
Autism 0 0 1 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 52 10 94 233 24 413
GeneDx 3 2 8 19 26 58
Illumina Laboratory Services, Illumina 0 0 50 4 3 57
Natera, Inc. 3 1 26 13 7 50
Baylor Genetics 10 38 0 0 0 48
Counsyl 1 27 3 2 0 33
Fulgent Genetics, Fulgent Genetics 6 18 4 1 0 29
Ambry Genetics 2 2 8 12 0 24
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 21 0 0 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 5 6 0 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 1 5 11 17
OMIM 11 0 0 0 0 11
CeGaT Center for Human Genetics Tuebingen 2 1 3 2 3 11
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 3 4 10
Eurofins Ntd Llc (ga) 2 0 5 0 2 9
Genome-Nilou Lab 0 0 4 0 5 9
PreventionGenetics, part of Exact Sciences 0 0 0 4 4 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 3 2 7
Revvity Omics, Revvity 2 1 1 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 2 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 2
MyeliNeuroGene Lab, McGill University Health Center Research Institute 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 2
Myriad Genetics, Inc. 1 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 2
3billion 2 0 0 0 0 2
Mendelics 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 0 0 1 0 0 1

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