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 |
11
|
10
|
344
|
296
|
32
|
2
|
686
|
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 |
MORC2
|
11
|
10
|
344
|
296
|
32
|
2
|
686
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
11
|
5
|
336
|
292
|
30
|
0 |
674
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
20
|
0 |
20
|
Baylor Genetics
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
Mendelics
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The Genetics Institute, Rambam Health Care Campus
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town
|
1
|
0 |
0 |
0 |
0 |
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.