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 |
|
16
|
14
|
16
|
1
|
0 |
2
|
46
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
not provided |
total |
|
SNX14
|
16
|
14
|
15
|
1
|
2
|
45
|
|
MT-CYB
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
not provided |
total |
|
Baylor Genetics
|
0 |
0 |
9
|
0 |
0 |
9
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
8
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
1
|
0 |
0 |
3
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
0 |
0 |
0 |
3
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
|
1
|
1
|
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
1
|
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Revvity Omics, Revvity
|
0 |
2
|
0 |
0 |
0 |
2
|
|
3billion
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of genome editing, Research Centre for Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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