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 |
total |
9
|
6
|
16
|
2
|
8
|
38
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
TELO2
|
9
|
6
|
15
|
2
|
8
|
37
|
JMJD1C
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
8
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
Baylor Genetics
|
0 |
0 |
6
|
0 |
0 |
6
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
6
|
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
0 |
2
|
1
|
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
0 |
0 |
3
|
Mendelics
|
3
|
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
0 |
1
|
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
1
|
0 |
0 |
0 |
2
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
1
|
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
2
|
Pediatrics, Sichuan Provincial Hospital For Women And Children
|
0 |
0 |
2
|
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
1
|
3billion
|
0 |
0 |
0 |
1
|
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
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