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 |
|
26
|
7
|
172
|
17
|
57
|
2
|
273
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
SPINK5
|
26
|
7
|
172
|
17
|
57
|
2
|
273
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
7
|
0 |
114
|
8
|
0 |
0 |
129
|
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
49
|
8
|
45
|
0 |
104
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
27
|
0 |
27
|
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
2
|
2
|
0 |
0 |
5
|
|
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
3billion
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
New York Genome Center
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
Mendelics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Narges Medical Genetic and Prenatal Diagnosis Lab
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Biomedical Innovation Departament, CIEMAT
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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