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 |
28
|
14
|
67
|
66
|
14
|
182
|
Gene and significance breakdown #
Total genes and gene combinations: 9
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
6
|
1
|
52
|
61
|
12
|
132
|
Fulgent Genetics, Fulgent Genetics
|
5
|
2
|
15
|
6
|
0 |
28
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
14
|
Laboratory of Molecular Diagnosis of Genetic Disease, Università degli Studi di Napoli Federico II
|
0 |
3
|
2
|
1
|
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
5
|
Mendelics
|
4
|
0 |
0 |
0 |
0 |
4
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
1
|
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
2
|
University of Washington Center for Mendelian Genomics, University of Washington
|
2
|
0 |
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Revvity Omics, Revvity
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
1
|
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute
|
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Section, Sidra Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
1
|
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
1
|
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