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 |
5
|
5
|
9
|
2
|
13
|
2
|
34
|
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 |
PTPRQ
|
4
|
5
|
9
|
2
|
13
|
2
|
33
|
CDH23
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
11
|
0 |
11
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
2
|
0 |
4
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
The Shared Resource Centre "Genome", Research Centre for Medical Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Hereditary Hearing Loss Research Unit, University of Madras
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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