ClinVar Miner

Variants in gene combination DOK1, LOXL3

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
3 1 84 67 4 154

Condition and significance breakdown #

Total conditions: 4
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 63 66 3 130
not specified 0 0 28 0 1 29
LOXL3-related disorder 0 0 3 7 1 11
Myopia 28, autosomal recessive 3 1 0 0 0 4

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 61 64 3 128
Ambry Genetics 0 0 28 0 0 28
PreventionGenetics, part of Exact Sciences 0 0 3 7 2 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 2 4
GeneDx 0 0 2 0 1 3
CeGaT Center for Human Genetics Tuebingen 0 0 0 3 0 3
OMIM 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 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.