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 total
2 2 98 142 43 251

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 1 35 62 34 125
not specified 0 0 7 81 13 100
Epileptic encephalopathy, early infantile, 36 2 0 52 7 5 66
History of neurodevelopmental disorder 0 0 7 7 11 25
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
Inborn genetic diseases 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 50 52 35 137
GeneDx 1 1 24 95 14 135
Ambry Genetics 0 0 8 7 11 26
Athena Diagnostics Inc 0 0 4 2 8 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 6 1 1 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 4
OMIM 2 0 1 0 0 3
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 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.