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 |
|
4
|
3
|
442
|
220
|
81
|
1
|
672
|
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
|
1
|
1
|
326
|
181
|
58
|
0 |
567
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
34
|
13
|
36
|
0 |
83
|
|
Ambry Genetics
|
0 |
0 |
75
|
2
|
0 |
0 |
77
|
|
GeneDx
|
0 |
0 |
25
|
16
|
24
|
0 |
64
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
4
|
14
|
16
|
0 |
34
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
2
|
5
|
19
|
0 |
26
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
5
|
11
|
7
|
0 |
24
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
4
|
6
|
0 |
11
|
|
Revvity Omics, Revvity
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
8
|
2
|
0 |
0 |
10
|
|
Athena Diagnostics
|
0 |
0 |
2
|
1
|
4
|
0 |
7
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
4
|
0 |
5
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
|
Mendelics
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
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
professional.