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 |
57
|
89
|
33
|
3
|
5
|
2
|
182
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Baylor Genetics
|
49
|
83
|
6
|
0 |
0 |
0 |
138
|
Fulgent Genetics, Fulgent Genetics
|
4
|
8
|
16
|
1
|
1
|
0 |
30
|
Genome-Nilou Lab
|
0 |
0 |
8
|
1
|
4
|
0 |
13
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Elsea Laboratory, Baylor College of Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Counsyl
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Leeds Amelogenesis Imperfecta Research Group, University of Leeds
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Dental Genetics Laboratory, Seoul National University School of Dentistry
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Inborn Errors of Metabolism, Hospital Clinic, IDIBAPS, CIBERER
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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