ClinVar Miner

Variants in gene ALG13

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
7 14 508 646 113 1 1170

Condition and significance breakdown #

Total conditions: 21
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 36 7 3 391 567 98 0 1021
not provided 1 4 155 102 28 0 276
not specified 0 0 15 60 22 0 92
Inborn genetic diseases 1 0 29 30 16 0 76
ALG13-related disorder 1 0 6 27 4 0 38
Congenital disorder of glycosylation 0 3 0 0 0 0 3
Intellectual disability 1 0 0 2 0 0 3
Seizure 1 1 1 0 0 0 3
Developmental and epileptic encephalopathy 0 0 2 0 0 0 2
Neurodevelopmental delay 0 2 0 0 0 0 2
See cases 0 0 2 0 0 0 2
Developmental and epileptic encephalopathy, 1 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 1; Congenital disorder of glycosylation 0 0 0 0 0 1 1
Epileptic encephalopathy 0 0 1 0 0 0 1
Focal segmental glomerulosclerosis 0 0 1 0 0 0 1
Microcephaly 0 1 0 0 0 0 1
Rare genetic intellectual disability 1 0 0 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 0 1
Seizure; Microcephaly; Neurodevelopmental delay 0 1 0 0 0 0 1
Seizure; Microcephaly; Neurodevelopmental delay; Hypotonia 0 1 0 0 0 0 1
Seizure; Neurodevelopmental delay; Hypotonia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 359 541 90 0 991
GeneDx 1 1 126 120 29 0 277
Fulgent Genetics, Fulgent Genetics 1 0 32 44 2 0 79
Ambry Genetics 1 0 29 30 16 0 76
CeGaT Center for Human Genetics Tuebingen 1 1 14 38 0 0 54
Genome-Nilou Lab 0 0 0 0 49 0 49
PreventionGenetics, part of Exact Sciences 1 0 6 27 4 0 38
Athena Diagnostics 0 0 6 2 14 0 22
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 13 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 11 1 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 12 1 0 13
Revvity Omics, Revvity 0 0 12 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 9 3 0 0 12
Eurofins Ntd Llc (ga) 0 0 6 1 1 0 8
OMIM 6 0 1 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 4 0 7
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 6
Baylor Genetics 0 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 3 0 2 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 0 4 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 2 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
Dr.Nikuei Genetic Center 0 0 0 1 3 0 4
Mendelics 2 0 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.