ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 36

Coded as:
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Gene type:
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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
7 2 358 525 91 942

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALG13 7 2 355 525 91 939
ALG13, DCX 0 0 2 0 0 2
ALG13, CAPN6, CHRDL1, DCX, PAK3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 329 499 86 915
Fulgent Genetics, Fulgent Genetics 1 0 32 44 2 79
Genome-Nilou Lab 0 0 0 0 49 49
Revvity Omics, Revvity 0 0 12 0 0 12
OMIM 6 0 0 0 0 6
Baylor Genetics 0 0 5 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 2 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 4
Mendelics 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 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 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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