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 |
11
|
14
|
449
|
210
|
32
|
14
|
653
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
5
|
2
|
328
|
188
|
13
|
0 |
536
|
Eurofins Ntd Llc (ga)
|
0 |
3
|
111
|
5
|
2
|
0 |
121
|
Revvity Omics, Revvity
|
0 |
1
|
92
|
2
|
0 |
0 |
95
|
GeneDx
|
1
|
4
|
16
|
26
|
22
|
0 |
69
|
Ambry Genetics
|
0 |
0 |
40
|
2
|
0 |
0 |
42
|
Athena Diagnostics Inc
|
0 |
0 |
21
|
4
|
7
|
0 |
32
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
21
|
8
|
0 |
29
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
5
|
10
|
3
|
0 |
18
|
Leiden Muscular Dystrophy (DAG1)
|
0 |
0 |
0 |
0 |
0 |
11
|
11
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
5
|
4
|
0 |
0 |
9
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
Baylor Genetics
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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