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 |
88
|
12
|
287
|
320
|
26
|
4
|
729
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
75
|
7
|
284
|
320
|
26
|
0 |
712
|
Medical Biochemical Genetics, National Human Genome institute, NIH, National Institutes of Health
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Baylor Genetics
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Research Laboratories, P. D. Hinduja Hospital & MRC
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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