ClinVar Miner

Variants studied for Deficiency of galactokinase

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 total
59 59 92 288 21 465

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GALK1 58 59 87 286 16 453
GALK1, ITGB4 1 0 4 2 5 11
GALK1, LOC130061683 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 53 8 38 276 14 389
Natera, Inc. 4 0 15 17 5 41
Illumina Laboratory Services, Illumina 0 0 29 5 7 41
Counsyl 2 11 21 1 0 35
Baylor Genetics 5 26 0 0 0 31
Myriad Genetics, Inc. 0 16 1 0 0 17
Genome-Nilou Lab 0 1 4 2 3 10
Revvity Omics, Revvity Omics 3 2 3 0 0 8
OMIM 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 0 0 0 5
Mendelics 0 2 1 0 1 4
Fulgent Genetics, Fulgent Genetics 1 1 1 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 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.