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 |
216
|
84
|
654
|
1127
|
47
|
5
|
2116
|
Gene and significance breakdown #
Total genes and gene combinations: 19
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PEX6
|
137
|
43
|
485
|
825
|
31
|
2
|
1510
|
PEX16
|
19
|
10
|
162
|
302
|
15
|
0 |
507
|
PEX1
|
21
|
8
|
3
|
0 |
0 |
2
|
32
|
PEX10
|
6
|
7
|
0 |
0 |
0 |
1
|
13
|
PEX12
|
9
|
3
|
1
|
0 |
0 |
0 |
13
|
GATAD1, PEX1
|
6
|
3
|
0 |
0 |
0 |
0 |
9
|
PEX2
|
7
|
2
|
0 |
0 |
0 |
0 |
9
|
PEX26
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
PEX13
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
PEX3
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
GNMT, PEX6
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
LOC129998796, PEX1
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
ABCC10, BICRAL, BYSL, C6orf132, C6orf226, CCND3, CNPY3, CRIP3, CUL7, CUL9, DLK2, DNPH1, FOXP4, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1B, KLC4, KLHDC3, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MRPL2, MRPS10, MRPS18A, NCR2, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, SLC22A7, SRF, TAF8, TBCC, TFEB, TJAP1, TOMM6, TREM1, TREM2, TREML2, TREML4, TRERF1, TTBK1, UBR2, USP49, VEGFA, XPO5, YIPF3, ZNF318
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CNPY3, GNMT, PEX6, PPP2R5D, PTCRA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CREB3L1, CRY2, DGKZ, FREY1, LARGE2, MAPK8IP1, PEX16, PHF21A, SLC35C1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CRY2, FREY1, MAPK8IP1, PEX16, SLC35C1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GNMT, PEX6, PPP2R5D
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PEX11B
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PEX5
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
156
|
43
|
650
|
1126
|
47
|
0 |
2022
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
65
|
42
|
0 |
0 |
0 |
0 |
107
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Ege University Pediatric Genetics, Ege University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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