ClinVar Miner

Variants studied for Lethal Kniest-like syndrome

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
6 7 342 43 116 510

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
HSPG2 4 7 292 36 101 437
HSPG2, LDLRAD2 1 0 39 7 13 59
HSPG2, LOC126805655 1 0 11 0 2 14

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 321 42 100 463
Genome-Nilou Lab 0 0 0 0 51 51
Baylor Genetics 1 0 12 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 1 5
OMIM 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 2
3billion 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Mendelics 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 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.