ClinVar Miner

Variants in gene combination LOC113960611, SLC12A5

See also:
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
0 1 7 9 0 17

Condition and significance breakdown #

Total conditions: 3
Download table as spreadsheet
Condition likely pathogenic uncertain significance likely benign total
Developmental and epileptic encephalopathy, 34 1 7 9 17
Developmental and epileptic encephalopathy, 34; Epilepsy, idiopathic generalized, susceptibility to, 14 0 1 0 1
Inborn genetic diseases 0 1 0 1

Submitter and significance breakdown #

Total submitters: 5
Download table as spreadsheet
Submitter likely pathogenic uncertain significance likely benign total
Invitae 0 6 9 15
Baylor Genetics 0 1 0 1
Ambry Genetics 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.