ClinVar Miner

Variants studied for adolescence-adult electroclinical syndrome

Included ClinVar conditions (9):
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 association risk factor not provided total
3 3 286 156 45 1 5 3 476

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
EFHC1 2 0 237 107 32 1 5 1 360
CACNB4 0 0 41 45 12 0 0 0 97
GABRA1 0 2 6 0 0 0 0 0 8
CACNB4, LOC129934925 0 0 1 4 1 0 0 0 6
CACNA1G 0 0 0 0 0 0 0 2 2
CAPRIN1 1 0 0 0 0 0 0 0 1
CHRNA1 0 0 1 0 0 0 0 0 1
SNAP25 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 0 0 184 85 29 0 0 0 298
Illumina Laboratory Services, Illumina 0 0 97 69 16 0 0 0 181
Fulgent Genetics, Fulgent Genetics 0 0 11 2 0 0 0 0 13
Athena Diagnostics Inc 0 0 0 0 7 0 0 0 7
OMIM 0 0 1 0 0 0 5 0 6
Mendelics 0 2 1 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 0 0 1 0 0 1 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1

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