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 |
178
|
171
|
345
|
672
|
47
|
15
|
1254
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PYGM
|
177
|
171
|
345
|
672
|
47
|
15
|
1253
|
AP5B1, ARL2, ATG2A, B4GAT1, BANF1, BATF2, BBS1, BRMS1, C11orf68, CAPN1, CATSPER1, CCDC85B, CD248, CDC42BPG, CDC42EP2, CDCA5, CFL1, CNIH2, CST6, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EHD1, EIF1AD, FAM89B, FAU, FIBP, FOSL1, FRMD8, GAL3ST3, GPHA2, KAT5, KCNK7, KLC2, LTBP3, MAJIN, MALAT1, MAP3K11, MAP4K2, MEN1, MIR192, MIR194-2, MRPL11, MRPL49, MUS81, NAALADL1, NEAT1, NPAS4, OVOL1, PACS1, PCNX3, PELI3, POLA2, PPP2R5B, PYGM, RAB1B, RELA, RIN1, RNASEH2C, SAC3D1, SART1, SCYL1, SF1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX15, SNX32, SPDYC, SYVN1, TIGD3, TM7SF2, TMEM151A, TSGA10IP, VPS51, YIF1A, ZFPL1, ZNHIT2, ZNRD2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
154
|
49
|
184
|
662
|
32
|
0 |
1081
|
Revvity Omics, Revvity
|
18
|
10
|
118
|
0 |
0 |
0 |
146
|
Natera, Inc.
|
17
|
13
|
77
|
16
|
16
|
0 |
139
|
Baylor Genetics
|
38
|
82
|
5
|
0 |
0 |
0 |
125
|
Illumina Laboratory Services, Illumina
|
3
|
2
|
67
|
6
|
9
|
0 |
87
|
Counsyl
|
7
|
40
|
23
|
1
|
0 |
0 |
71
|
Fulgent Genetics, Fulgent Genetics
|
8
|
4
|
14
|
2
|
0 |
0 |
28
|
Genome-Nilou Lab
|
0 |
0 |
16
|
3
|
9
|
0 |
28
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
10
|
10
|
0 |
0 |
0 |
0 |
20
|
OMIM
|
19
|
0 |
0 |
0 |
0 |
0 |
19
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
13
|
13
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
2
|
6
|
0 |
10
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
3
|
0 |
0 |
0 |
5
|
Molecular Genetics, Royal Melbourne Hospital
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Mendelics
|
1
|
1
|
0 |
0 |
1
|
0 |
3
|
DASA
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Immunology and Genetics Kaiserslautern
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
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.