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 |
8
|
6
|
13
|
3
|
6
|
1
|
35
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CLRN1
|
7
|
6
|
13
|
3
|
6
|
1
|
34
|
USH2A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Natera, Inc.
|
3
|
1
|
10
|
3
|
2
|
0 |
19
|
Fulgent Genetics, Fulgent Genetics
|
5
|
1
|
3
|
0 |
0 |
0 |
9
|
Pars Genome Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Myriad Genetics, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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