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 |
49
|
25
|
518
|
313
|
46
|
905
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
LAMB2
|
47
|
25
|
503
|
308
|
45
|
883
|
LAMB2, LOC129936738
|
1
|
0 |
15
|
4
|
1
|
20
|
AMT, C3orf62, C3orf84, CCDC71, DAG1, GPX1, IHO1, KLHDC8B, LAMB2, NICN1, RHOA, TCTA, USP4
|
1
|
0 |
0 |
0 |
0 |
1
|
SERPINA10
|
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
35
|
8
|
446
|
299
|
45
|
833
|
Fulgent Genetics, Fulgent Genetics
|
2
|
3
|
110
|
30
|
3
|
148
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
92
|
14
|
19
|
124
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
11
|
Baylor Genetics
|
1
|
2
|
4
|
0 |
0 |
7
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
4
|
3
|
0 |
0 |
7
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
2
|
2
|
0 |
0 |
2
|
6
|
3billion
|
1
|
2
|
1
|
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
2
|
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
1
|
0 |
2
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
0 |
2
|
0 |
0 |
0 |
2
|
Precision Medicine Center, Zhengzhou University
|
1
|
0 |
1
|
0 |
0 |
2
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
1
|
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University
|
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
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