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 |
total |
182
|
46
|
430
|
454
|
121
|
1207
|
Gene and significance breakdown #
Total genes and gene combinations: 33
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
GATA1
|
31
|
2
|
117
|
68
|
43
|
261
|
DIPK1A, RPL5
|
37
|
7
|
83
|
68
|
14
|
206
|
RPS19
|
49
|
18
|
65
|
64
|
17
|
204
|
RPL11
|
23
|
9
|
32
|
50
|
11
|
121
|
RPS10, RPS10-NUDT3
|
4
|
1
|
43
|
53
|
8
|
106
|
RPS24
|
5
|
1
|
30
|
53
|
7
|
93
|
RPL26
|
0 |
0 |
29
|
31
|
5
|
63
|
LOC129929673, RPL11
|
2
|
0 |
3
|
11
|
4
|
20
|
RPS26
|
7
|
4
|
2
|
3
|
1
|
17
|
RPS7
|
1
|
0 |
4
|
10
|
0 |
15
|
RPL5
|
3
|
0 |
4
|
4
|
4
|
14
|
IQCG, RPL35A
|
1
|
2
|
6
|
4
|
0 |
13
|
RPL19
|
0 |
0 |
0 |
11
|
1
|
12
|
LOC130004144, RPS24
|
2
|
0 |
0 |
7
|
0 |
9
|
RPS17
|
3
|
0 |
0 |
6
|
0 |
9
|
RPS10
|
0 |
1
|
2
|
3
|
1
|
7
|
MIR6797, RPS19
|
1
|
0 |
2
|
3
|
0 |
6
|
GATA1, LOC119407405
|
0 |
0 |
1
|
2
|
2
|
5
|
HEATR3
|
4
|
1
|
0 |
0 |
0 |
5
|
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35
|
1
|
0 |
2
|
0 |
0 |
3
|
GATA1, GLOD5, SUV39H1, WAS
|
1
|
0 |
1
|
0 |
0 |
2
|
LOC130004143, POLR3A, RPS24
|
0 |
0 |
0 |
2
|
0 |
2
|
LOC130004144, POLR3A, RPS24
|
0 |
0 |
0 |
1
|
2
|
2
|
RPS20
|
2
|
0 |
0 |
0 |
0 |
2
|
TP53
|
2
|
0 |
0 |
0 |
0 |
2
|
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B
|
0 |
0 |
1
|
0 |
0 |
1
|
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC112533665, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862483, LOC126862484, LOC126862485, LOC129390832, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, VAMP2, WRAP53
|
1
|
0 |
0 |
0 |
0 |
1
|
ARHGEF15, KRBA2, ODF4, RANGRF, RPL26, SLC25A35
|
0 |
0 |
1
|
0 |
0 |
1
|
ASAP3, CNR2, E2F2, ELOA, FUCA1, GALE, GRHL3, HMGCL, HNRNPR, HTR1D, ID3, IFNLR1, IL22RA1, KDM1A, LUZP1, LYPLA2, MDS2, MYOM3, PITHD1, PNRC2, RPL11, SRSF10, TCEA3, ZNF436
|
1
|
0 |
0 |
0 |
0 |
1
|
BRDT, BTBD8, C1orf146, CDC7, DIPK1A, EPHX4, EVI5, GFI1, GLMN, HFM1, RPAP2, RPL5, SNORD21, TGFBR3
|
0 |
0 |
1
|
0 |
0 |
1
|
DIPK1A, RPL5, SNORA66
|
0 |
0 |
0 |
0 |
1
|
1
|
DIPK1A, RPL5, SNORD21
|
1
|
0 |
0 |
0 |
0 |
1
|
ZNF699
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
117
|
21
|
383
|
381
|
108
|
1010
|
Ambry Genetics
|
58
|
20
|
25
|
84
|
9
|
196
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
17
|
14
|
14
|
45
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
9
|
1
|
14
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
9
|
Revvity Omics, Revvity
|
3
|
0 |
3
|
0 |
0 |
6
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
2
|
2
|
0 |
1
|
6
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
3
|
3billion
|
1
|
1
|
1
|
0 |
0 |
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
1
|
1
|
0 |
0 |
3
|
Mendelics
|
0 |
0 |
0 |
2
|
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
2
|
Department of Pediatrics, Hirosaki University Graduate School of Medicine
|
2
|
0 |
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
1
|
0 |
0 |
2
|
Bertuch Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
1
|
0 |
0 |
2
|
Hematology Diagnostic Laboratory, Assistance Publique-Hôpitaux de Paris - Robert Debre Hospital
|
2
|
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
1
|
Gene Mapping Laboratory, Hacettepe University
|
1
|
0 |
0 |
0 |
0 |
1
|
Leuven Cancer Institute, KU Leuven and UZ Leuven
|
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
1
|
0 |
0 |
0 |
0 |
1
|
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