ClinVar Miner

Variants studied for benign adult familial myoclonic epilepsy

Included ClinVar conditions (5):
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 total
10 2 149 62 19 240

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CNTN2 2 2 145 62 19 228
ADRA2B 0 0 4 0 0 4
SAMD12 3 0 0 0 0 3
MARCHF6 2 0 0 0 0 2
STARD7 2 0 0 0 0 2
YEATS2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 2 139 62 18 222
OMIM 5 0 1 0 0 6
Baylor Genetics 0 0 6 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Mendelics 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 1
Institute for Human Genetics, University Hospital Essen 1 0 0 0 0 1
The Walter and Eliza Hall Institute of Medical Research 1 0 0 0 0 1
Excellence Center for Genomics and Precision Medicine,King Chulalongkorn Memorial Hospital 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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