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 |
96
|
30
|
705
|
484
|
172
|
1
|
1385
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
39
|
5
|
475
|
414
|
50
|
0 |
983
|
Eurofins Ntd Llc (ga)
|
16
|
2
|
188
|
6
|
10
|
0 |
222
|
GeneDx
|
3
|
1
|
20
|
50
|
129
|
0 |
203
|
Revvity Omics, Revvity
|
13
|
9
|
99
|
1
|
1
|
0 |
123
|
PreventionGenetics, part of Exact Sciences
|
2
|
1
|
7
|
22
|
19
|
0 |
51
|
Ambry Genetics
|
1
|
0 |
43
|
4
|
0 |
0 |
48
|
Institute of Human Genetics, University of Wuerzburg
|
4
|
7
|
17
|
0 |
0 |
0 |
28
|
Athena Diagnostics Inc
|
0 |
1
|
7
|
5
|
14
|
0 |
27
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
11
|
16
|
0 |
0 |
27
|
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital
|
20
|
0 |
0 |
0 |
0 |
0 |
20
|
OMIM
|
18
|
0 |
0 |
0 |
0 |
0 |
18
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
12
|
0 |
12
|
MGZ Medical Genetics Center
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Baylor Genetics
|
1
|
0 |
1
|
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 |
2
|
0 |
0 |
0 |
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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