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
85 72 503 159 32 1 816

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NBN 83 66 483 149 27 1 773
NBN, OSGIN2 2 6 20 10 5 0 43

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 31 455 140 26 0 727
Counsyl 1 46 52 15 1 0 115
Illumina Clinical Services Laboratory,Illumina 0 0 24 10 10 0 44
Mendelics 2 0 26 2 0 0 30
Fulgent Genetics 2 1 18 0 0 0 21
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
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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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