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 |
|
2
|
1
|
187
|
87
|
38
|
7
|
287
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
107
|
43
|
12
|
0 |
162
|
|
Ambry Genetics
|
0 |
0 |
85
|
39
|
7
|
0 |
131
|
|
GeneDx
|
0 |
0 |
15
|
20
|
30
|
0 |
65
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
11
|
11
|
7
|
1
|
30
|
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
0 |
9
|
4
|
7
|
0 |
20
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
17
|
2
|
0 |
0 |
20
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
0 |
4
|
16
|
0 |
20
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
3
|
2
|
11
|
0 |
16
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
2
|
8
|
0 |
11
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
2
|
4
|
3
|
0 |
9
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
2
|
4
|
3
|
0 |
9
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
2
|
5
|
0 |
8
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
4
|
2
|
0 |
7
|
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
5
|
1
|
0 |
0 |
6
|
|
Leiden Muscular Dystrophy (MYOZ2)
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
3
|
1
|
0 |
5
|
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
1
|
1
|
2
|
0 |
4
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Human Genetics, University of Leuven
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Klaassen Lab, Charite University Medicine Berlin
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
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