ClinVar Miner

Variants studied for developmental and epileptic encephalopathy, 36

Included ClinVar conditions (1):
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
7 3 359 527 95 948

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALG13 7 3 356 527 94 944
ALG13, DCX 0 0 2 0 0 2
ALAS2 0 0 0 0 1 1
ALG13, CAPN6, CHRDL1, DCX, PAK3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 330 499 86 916
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
Dr.Nikuei Genetic Center 0 0 0 1 4 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 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
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
3billion 0 0 0 1 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
Solve-RD Consortium 0 1 0 0 0 1

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