ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 25

Coded as:
Minimum submission review status: Collection method:
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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
38 28 258 312 22 641

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
SLC13A5 37 28 256 312 22 638
ACADVL, AIPL1, ALOX12, ASGR1, ASGR2, BACC1, BCL6B, C17orf100, CLEC10A, DLG4, FBXO39, KIAA0753, MED31, MIR195, MIR497HG, PIMREG, PITPNM3, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, TXNDC17, XAF1 0 0 1 0 0 1
AIPL1, C17orf100, C1QBP, DERL2, DHX33, KIAA0753, MED31, MIS12, NLRP1, NUP88, PIMREG, PITPNM3, RPAIN, SLC13A5, TXNDC17, WSCD1 0 0 1 0 0 1
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 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 33 13 239 310 21 616
Genome-Nilou Lab 3 3 31 4 10 51
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 5 9 0 0 16
Baylor Genetics 1 2 7 0 0 10
OMIM 9 0 0 0 0 9
Mendelics 2 2 2 0 0 6
Revvity Omics, Revvity 0 0 5 0 0 5
Fulgent Genetics, Fulgent Genetics 1 1 3 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 1 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Suma Genomics 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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