ClinVar Miner

Variants studied for myoclonic-atonic epilepsy

Included ClinVar conditions (1):
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 not provided total
62 32 188 289 78 3 642

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 not provided total
SLC6A1 61 31 188 289 78 3 640
ARPC4, ARPC4-TTLL3, ATP2B2, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, FANCD2, FANCD2OS, GHRL, GHRLOS, IL17RC, IL17RE, IRAK2, JAGN1, MTMR14, OGG1, PRRT3, RPUSD3, SEC13, SLC6A1, SLC6A11, TADA3, TATDN2, TTLL3, VHL 1 0 0 0 0 0 1
ATP2B2, BRK1, CRELD1, EMC3, FANCD2, FANCD2OS, GHRL, GHRLOS, IL17RC, IRAK2, PRRT3, SEC13, SLC6A1, SLC6A11, TATDN2, VHL 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 56 18 177 288 78 0 617
Revvity Omics, Revvity 2 1 9 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
3billion 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1

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