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 |
4
|
4
|
27
|
0 |
0 |
4
|
33
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
not provided |
total |
SAMD9L
|
4
|
4
|
27
|
4
|
33
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
not provided |
total |
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
13
|
0 |
13
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
5
|
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
4
|
4
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
2
|
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
1
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
1
|
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.