ClinVar Miner

Variants studied for Congenital glucose-galactose malabsorption

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
16 8 184 172 39 395

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC5A1 16 8 183 172 39 394
BPIFC, C22orf42, FBXO7, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A1, SLC5A4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 5 112 161 25 312
Illumina Laboratory Services, Illumina 0 0 76 10 27 113
Fulgent Genetics, Fulgent Genetics 1 0 25 9 1 36
Baylor Genetics 1 0 4 0 0 5
Mendelics 3 1 0 0 0 4
OMIM 3 0 0 0 0 3
3billion 0 1 2 0 0 3
Revvity Omics, Revvity Omics 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 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.