ClinVar Miner

Variants studied for Progressive myoclonic epilepsy type 7

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
4 11 201 195 14 421

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KCNC1 4 11 200 195 14 420
CSRP3, GTF2H1, HPS5, IGSF22, KCNC1, LDHA, LDHAL6A, LDHC, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MYOD1, OTOG, PTPN5, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SERGEF, SPTY2D1, TMEM86A, TPH1, TSG101, UEVLD, USH1C, ZDHHC13 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 4 4 190 194 14 406
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 3 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 3
Baylor Genetics 0 0 2 0 0 2
Mendelics 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
3billion 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1

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