ClinVar Miner

Variants studied for BNAR syndrome

Included ClinVar conditions (3):
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
8 35 398 22 0 459

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 total
FREM1 6 32 377 21 432
FREM1, LOC126860582 2 3 21 1 27

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign total
Fulgent Genetics, Fulgent Genetics 1 27 387 20 435
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 6 0 7
OMIM 4 0 0 0 4
Baylor Genetics 0 0 3 0 3
3billion 0 0 0 2 2
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 2
Medical Molecular Genetics Department, National Research Center 0 1 1 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 1
Dasa 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 1
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.