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 |
22
|
11
|
195
|
134
|
36
|
4
|
393
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
WASHC5
|
15
|
9
|
144
|
125
|
30
|
1
|
321
|
CCDC22
|
2
|
1
|
30
|
2
|
3
|
2
|
37
|
LOC126860498, WASHC5
|
1
|
1
|
14
|
7
|
3
|
1
|
25
|
DPYSL5
|
2
|
0 |
5
|
0 |
0 |
0 |
6
|
VPS35L
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
AGBL5, CENPA, CGREF1, CIB4, DPYSL5, EMILIN1, KCNK3, KHK, MAPRE3, OST4, SLC35F6, TMEM214
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NSMCE2, WASHC5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
15
|
7
|
154
|
129
|
33
|
0 |
338
|
Revvity Omics, Revvity
|
0 |
0 |
12
|
0 |
0 |
0 |
12
|
Baylor Genetics
|
0 |
0 |
9
|
0 |
0 |
0 |
9
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
3
|
0 |
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dobyns Lab, Seattle Children's Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Istanbul Faculty of Medicine, Istanbul University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Personalized Medicine, Danish Epilepsy Center
|
0 |
0 |
1
|
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
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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