ClinVar Miner

Variants studied for autosomal dominant epilepsy with auditory features

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
83 32 1522 1510 204 15 3276

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 not provided total
RELN 35 15 1011 1040 152 7 2202
RELN, SLC26A5 5 1 224 235 25 1 473
LGI1 36 13 194 137 10 6 386
LOC126860130, RELN, SLC26A5 2 1 37 50 7 1 95
GAL 1 0 35 13 5 0 54
LOC126860131, RELN 0 0 17 33 5 0 54
MICAL1 1 2 2 2 0 0 7
DNAJC2, PMPCB, PSMC2, RELN, SLC26A5 1 0 1 0 0 0 2
CEP55, FFAR4, FRA10AC1, LGI1, MYOF, PDE6C, RBP4 1 0 0 0 0 0 1
GRIN2A 0 0 1 0 0 0 1
KAT6B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 65 19 1425 1491 202 0 3202
Fulgent Genetics, Fulgent Genetics 0 1 58 22 3 0 84
Illumina Laboratory Services, Illumina 0 0 22 2 0 0 24
OMIM 16 0 0 0 0 0 16
GeneReviews 1 0 0 0 0 13 14
New York Genome Center 0 0 14 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 12 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 1 4 5 0 0 0 10
Baylor Genetics 0 1 5 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 1 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Neurology, Hunan Children's Hospital 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 1 0 0 0 0 1

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