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 |
48
|
34
|
207
|
210
|
22
|
489
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
DDC
|
48
|
34
|
207
|
210
|
22
|
489
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
41
|
18
|
175
|
205
|
16
|
455
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
40
|
3
|
12
|
55
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
8
|
Revvity Omics, Revvity
|
3
|
1
|
2
|
0 |
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
3
|
0 |
0 |
0 |
6
|
Mendelics
|
2
|
3
|
0 |
1
|
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
3
|
0 |
0 |
0 |
4
|
Elsea Laboratory, Baylor College of Medicine
|
1
|
2
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
1
|
3
|
Baylor Genetics
|
1
|
1
|
0 |
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
0 |
1
|
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
Medical Genetics Lab, Policlinico S. Orsola.Malpighi
|
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
1
|
0 |
0 |
0 |
1
|
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