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 |
3
|
3
|
20
|
6
|
1
|
2
|
33
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CHRNB2
|
3
|
3
|
20
|
6
|
1
|
2
|
33
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
5
|
0 |
0 |
8
|
New York Genome Center
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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