ClinVar Miner

Variants studied for IFAP syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
11 0 15 2 0 28

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance likely benign total
MBTPS2 7 7 0 14
SREBF1 3 7 2 12
GJB2 1 0 0 1
MBTPS2, YY2 0 1 0 1

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign total
OMIM 9 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 7 1 8
Baylor Genetics 1 3 0 4
Clinical Genetics Laboratory of Dermatology, Peking University First Hospital 3 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 2
3billion 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 1
Centre for Medical Genetics, Mumbai 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1
Uitto Lab, Thomas Jefferson University 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.