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 |
risk factor |
not provided |
total |
6
|
3
|
791
|
584
|
78
|
18
|
3
|
1467
|
Gene and significance breakdown #
Total genes and gene combinations: 14
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
TLR3
|
0 |
1
|
260
|
125
|
21
|
9
|
0 |
409
|
TICAM1
|
0 |
0 |
198
|
142
|
11
|
4
|
0 |
352
|
UNC93B1
|
4
|
2
|
156
|
140
|
22
|
2
|
1
|
323
|
TRAF3
|
1
|
0 |
133
|
151
|
22
|
1
|
0 |
307
|
LOC130006235, UNC93B1
|
0 |
0 |
20
|
10
|
1
|
0 |
1
|
31
|
LOC126862065, TRAF3
|
0 |
0 |
15
|
14
|
1
|
0 |
0 |
30
|
LOC130006234, UNC93B1
|
1
|
0 |
4
|
1
|
0 |
0 |
0 |
6
|
IRF3
|
0 |
0 |
0 |
1
|
0 |
2
|
0 |
3
|
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CKB, CLBA1, COA8, EIF5, EXOC3L4, GPR132, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, XRCC3, ZBTB42, ZFYVE21
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AMN, LOC130056550, LOC130056551, LOC130056552, LOC130056553, TRAF3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ANKRD37, CCDC110, CFAP96, CFAP97, CYP4V2, F11, FAM149A, FAT1, KLKB1, LRP2BP, MTNR1A, PDLIM3, SLC25A4, SNX25, SORBS2, TLR3, UFSP2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TBK1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
5
|
2
|
787
|
580
|
78
|
0 |
0 |
1452
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
18
|
0 |
18
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
7
|
3
|
1
|
0 |
0 |
11
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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