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
2 2 74 98 27 179

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 8 81 13 101
Epileptic encephalopathy, early infantile, 36 2 0 32 19 19 72
not provided 1 1 30 0 4 36
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 1 1 24 80 13 119
Invitae 1 0 30 19 19 69
Ambry Genetics 0 0 8 7 11 26
Athena Diagnostics Inc 0 0 3 1 6 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 6 1 1 8
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 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

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