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 |
107
|
32
|
2290
|
1603
|
417
|
2
|
4207
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
SYNE1
|
101
|
31
|
2172
|
1514
|
392
|
2
|
3978
|
LOC126859837, SYNE1
|
3
|
1
|
42
|
35
|
6
|
0 |
83
|
ESR1, SYNE1
|
0 |
0 |
35
|
13
|
11
|
0 |
58
|
LOC129997480, SYNE1
|
1
|
0 |
20
|
19
|
3
|
0 |
40
|
LOC126859838, SYNE1
|
1
|
0 |
14
|
16
|
1
|
0 |
30
|
LOC126859836, SYNE1
|
0 |
0 |
6
|
6
|
4
|
0 |
16
|
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
98
|
25
|
2146
|
1538
|
224
|
0 |
4031
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
151
|
65
|
334
|
0 |
550
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
23
|
21
|
0 |
0 |
45
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
31
|
0 |
31
|
Baylor Genetics
|
0 |
1
|
28
|
0 |
0 |
0 |
29
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
3
|
0 |
3
|
0 |
0 |
0 |
6
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
OMIM
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Clinical Genetics, Medical University of Lodz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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