ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 23

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
66 31 661 783 45 1567

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
DOCK7 63 31 651 766 42 1534
DOCK7, LOC129930655 0 0 5 13 1 19
ANGPTL3, DOCK7 3 0 4 4 2 13
ALG6, ATG4C, DOCK7, FOXD3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 56 14 643 768 42 1523
Genome-Nilou Lab 2 3 90 31 16 142
Fulgent Genetics, Fulgent Genetics 0 1 7 2 0 10
Revvity Omics, Revvity 0 1 9 0 0 10
Baylor Genetics 0 0 8 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 5 7
3billion 1 0 0 4 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 3 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 5
New York Genome Center 0 0 4 0 0 4
OMIM 4 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 2
Mendelics 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1

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