ClinVar Miner

Variants studied for EAST syndrome

Coded as:
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
13 4 145 43 23 1 216

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 not provided total
KCNJ10 13 4 144 43 23 1 215
ATP1A2, IGSF8, KCNJ10, KCNJ9 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 3 82 38 5 0 131
Illumina Clinical Services Laboratory,Illumina 0 0 67 6 20 0 93
OMIM 11 0 0 0 0 0 11
Baylor Genetics 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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