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 |
association |
uncertain risk allele |
not provided |
total |
5
|
7
|
39
|
13
|
32
|
1
|
1
|
2
|
68
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
uncertain risk allele |
not provided |
total |
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
1
|
2
|
2
|
23
|
1
|
1
|
0 |
30
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
14
|
4
|
7
|
0 |
0 |
0 |
25
|
ClinGen Monogenic Diabetes Variant Curation Expert Panel
|
2
|
4
|
13
|
0 |
3
|
0 |
0 |
0 |
22
|
Invitae
|
0 |
1
|
7
|
6
|
0 |
0 |
0 |
0 |
14
|
GeneDx
|
0 |
0 |
1
|
2
|
3
|
0 |
0 |
0 |
6
|
Athena Diagnostics Inc
|
0 |
1
|
2
|
0 |
2
|
0 |
0 |
0 |
5
|
Ambry Genetics
|
0 |
0 |
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
1
|
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Clinic, Geisinger Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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