ClinVar Miner

Variants in gene combination NBN, OSGIN2

See also:
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
2 7 24 13 6 1 51

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Microcephaly, normal intelligence and immunodeficiency 2 6 21 10 5 0 44
Hereditary cancer-predisposing syndrome 0 1 6 4 0 0 10
not provided 0 0 1 0 1 1 3
not specified 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 10 8 5 0 23
Invitae 2 4 10 2 0 0 18
Color 0 0 3 4 0 0 7
Ambry Genetics 0 1 4 1 0 0 6
Counsyl 0 2 1 0 0 0 3
GeneDx 0 0 1 1 0 0 2
Harris Lab, University of Minnesota 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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