ClinVar Miner

Variants studied for Microcephaly, normal intelligence and immunodeficiency

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 not provided total
103 81 614 69 12 1 858

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 benign not provided total
NBN 101 75 593 60 7 1 815
NBN, OSGIN2 2 6 21 9 5 0 43

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 92 39 571 32 0 0 734
Counsyl 1 46 52 15 1 0 115
Mendelics 2 3 32 12 1 0 50
Illumina Clinical Services Laboratory,Illumina 0 0 24 10 10 0 44
GeneReviews 12 0 0 0 0 1 13
OMIM 9 0 0 0 0 0 9
Integrated Genetics/Laboratory Corporation of America 3 6 0 0 0 0 9
Baylor Genetics 2 1 0 0 0 0 3
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 0 1 0 0 0 0 1
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
Department of Genetics,Sultan Qaboos University Hospital, Oman 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.