ClinVar Miner

Variants studied for Nijmegen breakage syndrome

Included ClinVar conditions (2):
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 not provided total
176 111 1005 309 45 2 1587

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 not provided total
NBN 174 105 963 303 32 2 1518
NBN, OSGIN2 2 6 41 6 13 0 68
DECR1, NBN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 166 69 936 287 30 0 1488
Counsyl 1 46 52 15 1 0 115
Natera, Inc. 6 4 79 4 9 0 102
Illumina Clinical Services Laboratory,Illumina 0 0 61 7 27 0 95
Mendelics 2 3 32 12 1 0 50
Fulgent Genetics,Fulgent Genetics 2 1 18 0 0 0 21
Integrated Genetics/Laboratory Corporation of America 5 9 0 0 0 0 14
GeneReviews 12 0 0 0 0 1 13
OMIM 9 0 0 0 0 0 9
Baylor Genetics 2 1 2 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 1 2 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Miami Human Genetics,University of Miami Miller School of Medicine 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 1 0 0 1
Nilou-Genome Lab 0 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.