ClinVar Miner

Variants in gene ALG13

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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
3 3 199 180 48 386

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Epileptic encephalopathy, early infantile, 36 3 1 155 82 34 272
not specified 0 0 8 81 14 101
not provided 1 1 36 41 13 91
History of neurodevelopmental disorder 0 0 7 7 11 25
Inborn genetic diseases 0 0 3 0 0 3
Intellectual disability 1 0 0 2 0 3
Epileptic encephalopathy 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 1 0 0 1 0 0 1
Focal segmental glomerulosclerosis 0 0 1 0 0 1
Global developmental delay; Cortical visual impairment; Microcephaly; Osteopenia; Infantile spasms 0 1 0 0 0 1
Rare genetic intellectual disability 1 0 0 0 0 1
See cases 0 0 1 0 0 1
Seizures 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 147 93 39 279
GeneDx 1 1 24 95 14 135
Ambry Genetics 0 0 10 7 11 28
Athena Diagnostics Inc 0 0 5 2 9 16
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 3 5 0 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 6 1 1 8
OMIM 3 0 1 0 0 4
Baylor Genetics 0 0 4 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 2 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 1 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
ISCA site 1 0 0 1 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 1

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