ClinVar Miner

Variants studied for Focal segmental glomerulosclerosis 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
5 5 26 27 41 94

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
ACTN4 5 5 24 27 40 91
ACTN4, LOC130064361 0 0 0 0 1 1
ARHGAP24 0 0 1 0 0 1
NUP107 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 1 0 14 27 4 46
Genome-Nilou Lab 0 0 0 0 40 40
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 4 0 0 7
OMIM 4 0 0 0 0 4
Athena Diagnostics Inc 0 0 0 0 4 4
Baylor Genetics 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
3billion 0 1 1 0 0 2
Revvity Omics, Revvity Omics 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 0 0 1 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 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.