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 |
risk factor |
total |
3
|
12
|
102
|
33
|
24
|
16
|
188
|
Gene and significance breakdown #
Total genes and gene combinations: 40
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
RET
|
2
|
4
|
69
|
32
|
23
|
15
|
143
|
LOC106736614, RET
|
0 |
0 |
4
|
0 |
1
|
0 |
5
|
AHNAK
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
POLR2F, SOX10
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
C10orf55, PLAU
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CCR9, LZTFL1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CLUH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CNTN5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CREBBP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DENND3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DPYD
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DYNC2H1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FAT3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FBN1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GDNF
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GFRA1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GLI3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
IHH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
IRAK3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KDR
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC110120882, LOC110120883, POLR2F, SOX10
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC110121502, MCS+9.7, RET
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
LRBA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NAV2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NCLN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NOTCH2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NRP2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NTF3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NUP98
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
OR1F1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PGRMC2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PTCH1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SEMA3D
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SERPINF1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TBATA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TGFB2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
THBS4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TSC2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ZHX2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
73
|
31
|
23
|
0 |
127
|
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.
|
0 |
0 |
17
|
0 |
0 |
0 |
17
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
16
|
16
|
Clinical Genetics, Erasmus University Medical Center
|
1
|
2
|
12
|
1
|
0 |
0 |
16
|
Centre for Genomic Sciences,University of Hong Kong
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
U955 Equipe 11,INSERM
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Integrated Genetics/Laboratory Corporation of America
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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