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 |
8
|
1
|
107
|
24
|
9
|
2
|
151
|
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 |
SOS1
|
8
|
1
|
107
|
24
|
9
|
2
|
151
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
99
|
24
|
9
|
0 |
132
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Phosphorus, Inc.
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Human Genetics, Inc,Center for Human Genetics, Inc
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics laboratory, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva,University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenePathDx,Causeway Health Care Private Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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