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 |
drug response |
not provided |
total |
36
|
14
|
434
|
309
|
31
|
1
|
50
|
784
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
not provided |
total |
Invitae
|
25
|
2
|
309
|
222
|
11
|
0 |
0 |
569
|
Ambry Genetics
|
8
|
2
|
237
|
176
|
9
|
0 |
0 |
432
|
GeneDx
|
1
|
0 |
38
|
9
|
8
|
0 |
0 |
56
|
GeneReviews
|
0 |
5
|
0 |
1
|
0 |
0 |
49
|
55
|
Baylor Genetics
|
1
|
3
|
30
|
0 |
0 |
0 |
0 |
34
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
7
|
9
|
15
|
0 |
0 |
31
|
Sema4, Sema4
|
0 |
0 |
12
|
13
|
2
|
0 |
0 |
27
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
2
|
2
|
3
|
1
|
0 |
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
8
|
1
|
0 |
0 |
0 |
9
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
Preventiongenetics, part of Exact Sciences
|
0 |
0 |
3
|
0 |
2
|
0 |
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
1
|
0 |
0 |
0 |
5
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
2
|
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Korbonits Lab, Queen Mary University of London
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Revvity Omics, Revvity Omics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Aziz Sancar Institute of Experimental Medicine, Istanbul University
|
1
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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