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 |
10
|
6
|
16
|
10
|
5
|
43
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
3
|
0 |
3
|
10
|
2
|
18
|
GeneDx
|
0 |
1
|
2
|
0 |
3
|
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Ambry Genetics
|
0 |
0 |
4
|
0 |
0 |
4
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
4
|
0 |
0 |
0 |
4
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
2
|
Genetics Department, University Hospital of Toulouse
|
0 |
1
|
1
|
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
1
|
Department of Molecular and Human Genetics, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
0 |
1
|
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
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