ClinVar Miner

Variants studied for Developmental and epileptic encephalopathy, 12

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
99 32 781 917 88 1878

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PLCB1 16 14 426 464 49 930
PNKP 75 17 348 452 37 929
KCNH5 6 0 0 0 0 6
LOC130065408, PLCB1 0 0 3 0 1 4
LOC130065410, PLCB1 0 0 1 1 1 3
ADM5, AKT1S1, ALDH16A1, AP2A1, BCL2L12, CD37, CPT1C, DKKL1, FCGRT, FLT3LG, FUZ, IL4I1, IRF3, KASH5, MED25, MIR150, NOSIP, NUP62, PIH1D1, PNKP, PRMT1, PRR12, PRRG2, PTH2, PTOV1, RCN3, RPL13A, RPS11, RRAS, SCAF1, SLC17A7, SLC6A16, TBC1D17, TEAD2, TRPM4, TSKS 0 0 1 0 0 1
ADM5, ALDH16A1, AP2A1, BCL2L12, C19orf73, CD37, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CPT1C, DKKL1, FCGRT, FLT3LG, FUZ, HRC, IRF3, KASH5, KCNA7, LHB, LIN7B, MED25, MIR150, NOSIP, NTF4, PIH1D1, PNKP, PPFIA3, PRMT1, PRR12, PRRG2, PTH2, PTOV1, RCN3, RPL13A, RPS11, RRAS, SCAF1, SLC17A7, SLC6A16, SNRNP70, TEAD2, TRPM4, TSKS 0 0 1 0 0 1
ANKEF1, HAO1, JAG1, LAMP5, MKKS, PAK5, PLCB1, PLCB4, SLX4IP, SNAP25, TMX4 1 0 0 0 0 1
LOC125384577, PLCB1, RNU105B 0 0 1 0 0 1
MED25, PNKP, PTOV1 1 0 0 0 0 1
SCN2A 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 92 29 683 906 81 1791
Illumina Laboratory Services, Illumina 0 0 91 7 6 104
Genome-Nilou Lab 0 0 0 0 12 12
OMIM 7 0 0 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 5 7
Fulgent Genetics, Fulgent Genetics 0 0 6 1 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 6
Baylor Genetics 0 0 5 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 3 5
Revvity Omics, Revvity 0 0 5 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 1 0 4
New York Genome Center 0 0 4 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1

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