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 |
|
71
|
23
|
347
|
243
|
22
|
1
|
666
|
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
STK11
|
63
|
23
|
343
|
242
|
22
|
1
|
653
|
|
LOC110006317, LOC110006318, STK11
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
|
ABCA7, ARHGAP45, ARID3A, CFD, CNN2, ELANE, GPX4, GRIN3B, KISS1R, MED16, POLR2E, R3HDM4, SBNO2, STK11, TMEM259, WDR18
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
|
CBARP, STK11
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
LOC110006318, STK11
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
50
|
6
|
291
|
185
|
20
|
0 |
552
|
|
Counsyl
|
0 |
2
|
59
|
56
|
1
|
0 |
118
|
|
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
35
|
25
|
2
|
0 |
62
|
|
Mendelics
|
1
|
1
|
22
|
0 |
0 |
0 |
24
|
|
OMIM
|
15
|
0 |
1
|
0 |
0 |
0 |
16
|
|
Database of Curated Mutations (DoCM)
|
0 |
10
|
0 |
0 |
0 |
0 |
10
|
|
Pathway Genomics
|
2
|
0 |
4
|
0 |
0 |
0 |
6
|
|
Integrated Genetics/Laboratory Corporation of America
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
|
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
CSER_CC_NCGL; University of Washington Medical Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
University of Washington Department of Laboratory Medicine,University of Washington
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Zhongshan School of Medicine,Sun Yat-Sen University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Academic Center for Education, Culture and Research, Motamed Cancer Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
National Molecular Genetics Centre of Cancer Research,N.N. Alexandrov National Cancer Centre of Belarus
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institutes of Biomedical Sciences,Shanxi University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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