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 |
association |
not provided |
total |
36
|
15
|
469
|
375
|
81
|
2
|
11
|
933
|
Gene and significance breakdown #
Total genes and gene combinations: 9
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
LPIN2
|
23
|
14
|
379
|
310
|
57
|
0 |
11
|
745
|
IL1RN
|
9
|
1
|
87
|
65
|
24
|
0 |
0 |
179
|
LOC130062090, LOC130062091, LOC130062092, LPIN2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
MLKL
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
2
|
EMILIN2, LPIN2, SMCHD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL1F10, IL1RN, IL36RN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IL1R1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NFKBIA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
Invitae
|
28
|
13
|
296
|
339
|
41
|
0 |
0 |
717
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
166
|
27
|
51
|
0 |
0 |
244
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
18
|
30
|
10
|
0 |
0 |
58
|
Revvity Omics, Revvity Omics
|
0 |
0 |
27
|
0 |
0 |
0 |
0 |
27
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
7
|
2
|
0 |
0 |
0 |
10
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
9
|
0 |
0 |
0 |
0 |
9
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
7
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
2
|
1
|
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Vinuesa Lab, Australian National University
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Experimental and Health Sciences Department, Universitat Pompeu Fabra
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
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.