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 |
1
|
0 |
23
|
5
|
13
|
41
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
uncertain significance |
likely benign |
benign |
total |
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
3
|
1
|
7
|
11
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
3
|
2
|
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
5
|
5
|
Baylor Genetics
|
0 |
4
|
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
3
|
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
0 |
2
|
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
2
|
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
1
|
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
1
|
0 |
2
|
OMIM
|
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
0 |
0 |
1
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
1
|
0 |
0 |
1
|
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