ClinVar Miner

Variants studied for Meckel syndrome, type 1

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 26 135 13 10 185

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MKS1 14 24 125 10 9 169
LOC130061271, MKS1 2 2 8 3 1 14
HOXB, HOXB6, LOC130061088 0 0 1 0 0 1
SNORD118, TMEM107 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 5 2 84 11 7 109
Illumina Laboratory Services, Illumina 0 1 49 2 5 57
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 15 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 4 0 0 7
OMIM 5 0 0 0 0 5
Genome-Nilou Lab 0 0 4 0 1 5
Counsyl 0 3 1 0 0 4
Baylor Genetics 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 2
3billion 0 1 1 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 1 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Myriad Genetics, Inc. 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.