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 |
|
16
|
13
|
28
|
0 |
8
|
1
|
58
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
Baylor Genetics
|
1
|
1
|
13
|
0 |
0 |
15
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
7
|
0 |
7
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
3
|
0 |
0 |
0 |
6
|
|
Mendelics
|
2
|
1
|
0 |
3
|
0 |
6
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
1
|
0 |
0 |
0 |
4
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
3
|
0 |
0 |
0 |
4
|
|
3billion
|
1
|
1
|
2
|
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
1
|
1
|
1
|
0 |
0 |
3
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
3
|
0 |
0 |
3
|
|
New York Genome Center
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Department of Pediatrics, Salzburger Landeskliniken & Paracelsus Medical University
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
2
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
1
|
|
DASA
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
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