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 |
total |
87
|
25
|
189
|
159
|
36
|
461
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
GCH1
|
72
|
23
|
162
|
135
|
28
|
387
|
GCH1, LOC130055692
|
11
|
0 |
25
|
22
|
7
|
63
|
GCH1, LOC130055688
|
0 |
0 |
0 |
2
|
1
|
3
|
PTS
|
1
|
1
|
1
|
0 |
0 |
3
|
GCH1, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, MIR4308
|
1
|
0 |
1
|
0 |
0 |
2
|
ATG14, BMP4, CDKN3, CGRRF1, CNIH1, DLGAP5, FBXO34, GCH1, GMFB, KTN1, LGALS3, LINC00520, LOC109433677, LOC110121362, LOC111413016, LOC112268483, LOC112268484, LOC112268485, LOC125024484, LOC125024485, LOC125024486, LOC125024487, LOC125024488, LOC125024489, LOC125024490, LOC126861945, LOC126861946, LOC126861947, LOC126861948, LOC126861949, LOC126861950, LOC126861951, LOC126861952, LOC130055670, LOC130055671, LOC130055672, LOC130055673, LOC130055674, LOC130055675, LOC130055676, LOC130055677, LOC130055678, LOC130055679, LOC130055680, LOC130055681, LOC130055682, LOC130055683, LOC130055684, LOC130055685, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, LOC130055693, LOC130055694, LOC130055695, LOC130055696, LOC130055697, LOC130055698, LOC130055699, LOC130055700, LOC130055701, LOC130055702, LOC130055703, LOC130055704, LOC130055705, LOC130055706, LOC130055707, LOC130055708, LOC130055709, LOC130055710, LOC130055711, LOC130055712, LOC130055713, LOC130055714, LOC130055715, LOC130055716, LOC130055717, MAPK1IP1L, MIR4308, PELI2, SAMD4A, SOCS4, TBPL2, WDHD1
|
1
|
0 |
0 |
0 |
0 |
1
|
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A
|
1
|
0 |
0 |
0 |
0 |
1
|
TH
|
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
63
|
13
|
130
|
149
|
9
|
364
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
50
|
13
|
29
|
76
|
OMIM
|
22
|
0 |
0 |
0 |
0 |
22
|
Mendelics
|
4
|
2
|
0 |
0 |
2
|
8
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
7
|
0 |
0 |
7
|
3billion
|
3
|
1
|
1
|
0 |
0 |
5
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
2
|
2
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
3
|
0 |
0 |
4
|
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital
|
1
|
1
|
1
|
0 |
0 |
3
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
2
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
1
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
National Reference Laboratory of Biochemistry, Pasteur Institute of Iran
|
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
1
|
NxGen MDx
|
0 |
1
|
0 |
0 |
0 |
1
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
1
|
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory Cellgenetics, GMDL Cellgenetics
|
0 |
1
|
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.