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 |
association |
likely pathogenic, low penetrance |
risk factor |
not provided |
total |
536
|
189
|
1716
|
1126
|
231
|
1
|
1
|
4
|
5
|
3763
|
Gene and significance breakdown #
Total genes and gene combinations: 196
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
likely pathogenic, low penetrance |
risk factor |
not provided |
total |
DNAH1
|
73
|
35
|
900
|
998
|
144
|
0 |
0 |
0 |
1
|
2139
|
FANCM
|
7
|
9
|
247
|
29
|
6
|
0 |
0 |
0 |
0 |
295
|
WDR19
|
7
|
36
|
178
|
31
|
1
|
0 |
0 |
0 |
0 |
253
|
NR5A1
|
36
|
14
|
55
|
26
|
18
|
0 |
0 |
0 |
0 |
144
|
CATSPER1
|
2
|
1
|
60
|
6
|
7
|
0 |
0 |
0 |
2
|
76
|
SPATA16
|
1
|
0 |
41
|
6
|
6
|
0 |
0 |
0 |
0 |
53
|
DNAH8
|
5
|
3
|
26
|
8
|
1
|
0 |
0 |
0 |
0 |
42
|
TEX15
|
6
|
5
|
17
|
5
|
0 |
0 |
0 |
0 |
0 |
33
|
AURKC
|
4
|
0 |
20
|
4
|
4
|
0 |
0 |
0 |
0 |
31
|
DNHD1
|
6
|
10
|
9
|
2
|
0 |
0 |
0 |
0 |
0 |
23
|
AR
|
6
|
6
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
22
|
SPEF2
|
8
|
0 |
2
|
2
|
9
|
0 |
0 |
0 |
0 |
21
|
FSIP2
|
13
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
SYCP3
|
3
|
0 |
6
|
1
|
6
|
0 |
0 |
0 |
0 |
16
|
CFAP43
|
11
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
TEX11
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
13
|
MSH4
|
7
|
0 |
0 |
0 |
5
|
0 |
0 |
0 |
0 |
12
|
PMFBP1
|
8
|
2
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
12
|
SHOC1
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
STAG3
|
5
|
0 |
0 |
0 |
6
|
0 |
0 |
0 |
0 |
11
|
TDRD9
|
2
|
3
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
11
|
XRCC2
|
1
|
3
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
11
|
DNAH10
|
2
|
0 |
8
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
DNAH17
|
6
|
3
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
10
|
DNAH2
|
6
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
DPY19L2
|
7
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
PIK3C2G, PLCZ1
|
8
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
PNLDC1
|
6
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
CFAP69
|
4
|
0 |
0 |
0 |
5
|
0 |
0 |
0 |
0 |
9
|
TEX14
|
2
|
1
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
FANCM, LOC130055524
|
0 |
0 |
6
|
2
|
0 |
0 |
0 |
0 |
0 |
8
|
M1AP
|
6
|
0 |
2
|
0 |
0 |
0 |
1
|
0 |
0 |
8
|
MOV10L1
|
4
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
QRICH2
|
4
|
0 |
1
|
0 |
3
|
0 |
0 |
0 |
0 |
8
|
SLC26A8
|
6
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
USP9Y
|
1
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
CFAP61
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
KASH5
|
6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
KLHL10
|
4
|
0 |
3
|
1
|
1
|
0 |
0 |
0 |
0 |
7
|
TDRD12
|
0 |
5
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
ACTL7A
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
CFAP44, LOC127898559
|
4
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
CFAP58
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
CFAP65
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
CHPT1, SYCP3
|
0 |
0 |
2
|
1
|
3
|
0 |
0 |
0 |
0 |
6
|
DNAH3
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
DRC1
|
2
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
GPAT2
|
0 |
3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
SUN5
|
6
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
TTC21A
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
TTC29
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
intergenic
|
1
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
ARMC2
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
CCIN
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
CFAP251
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
FKBP6
|
5
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
HFM1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
MEIOB
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
MSH5, MSH5-SAPCD1
|
4
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
5
|
SYCP2
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
ZMYND15
|
4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
ACTL9
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
AK7
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
AXDND1
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
C14orf39
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
CFAP47
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
GCNA
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
LOC101927178, PPP2R3C
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
SEPTIN12
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
3
|
2
|
4
|
STRC
|
1
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
TERB1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
USP26
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
AK9
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
ARMC12
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
BRWD1
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
CEP112
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
CFAP44, SPICE1-CFAP44
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
CFTR
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
DNAH10, DNAH10OS
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
HENMT1
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
IFT74
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
KCNU1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
NXT2
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
SOHLH1
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
SSX1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
TEKT3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
AKAP3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BCORL1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BPY2, BPY2B, BPY2C, CDY1, CDY2A, DAZ1, DAZ2, DAZ3, DAZ4, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TTTY10, TTTY13, TTTY14, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY9A, TTTY9B
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, PRY, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
C2CD6
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CCDC146
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CCDC34
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CCDC40
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CCDC62
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CDK16
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CFAP47, CXorf30
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CFAP65, LOC100129175
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CFAP91
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DMC1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DNAH11
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DNAH17, LOC126862653
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DNAH8, LOC126859667
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DNALI1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DZIP1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FAHD1, MEIOB
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FBXO43
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GALNTL5
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GGN
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GPR84, GTSF1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
IQCN
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LRRC23
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MAEL
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
NANOS1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
NLRP14
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
ODAD2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PIWIL2
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PLD6
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SPINK2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TERB2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ZPBP
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ZSWIM7
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ACR
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ADCY10, DCAF6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AK9, ZBTB24-DT
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AMELY
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ANK2, LOC126807137
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ANKRD36
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AR, LOC109504725
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BPY2, BPY2B, BPY2C, CDY1, CDY2A, DAZ1, DAZ2, DAZ3, DAZ4, DDX3Y, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, NLGN4Y, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TMSB4Y, TTTY10, TTTY13, TTTY14, TTTY15, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY9A, TTTY9B, USP9Y, UTY, VCY, VCY1B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BPY2, BPY2B, BPY2C, CDY1, CDY2A, DAZ1, DAZ2, DAZ3, DAZ4, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, NLGN4Y, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TMSB4Y, TTTY10, TTTY13, TTTY14, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY9A, TTTY9B, UTY, VCY, VCY1B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TTTY10, TTTY13, TTTY14, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY9A, TTTY9B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, EIF1AY, FAM197Y10, KDM5D, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TTTY10, TTTY13, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, PRY, PRY2, RBMY1D, RBMY1E, RBMY1F, RBMY1J, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BRDT
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BRWD1, LOC130066680
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
C1orf146
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CATIP
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CATSPER2, LOC130056949
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CATSPERB
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDY2A, DDX3Y, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, NLGN4Y, PRORY, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RPS4Y2, TMSB4Y, TTTY10, TTTY13, TTTY14, TTTY15, TTTY9A, TTTY9B, USP9Y, UTY, VCY, VCY1B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDY2B, FAM224B, FAM41AY1, LOC106144556, LOC126057108, NLGN4Y
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFAP251, LOC124849266
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFAP70
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFAP91, LOC129937328
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CLDN2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CT55
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CUL4B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CYLC1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
DDX25
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DDX3Y, TTTY15, USP9Y
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DDX4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNAH10, LOC126861667
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNAH17, LOC126862656
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNAH5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNAI1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DPY19L2, LOC130008194
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FAM83F
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GTF2H1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HORMAD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HOXD13
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KIF3B
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KLK14
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KLK4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC108281134, SOX3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126861916, PPP2R3C, PRORP, PRORP-PSMA6
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC130004821, NANOS1
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130004822, NANOS1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MAD2L2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MCM8
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MCMDC2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MYO6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NUP210L
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NXF3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PDCL2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PDHA2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PIWIL1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PSMD12
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
REC8
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
REDIC1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RNF212
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RPL10L
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SOX30
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SPACA1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SPAG17
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SPATA22
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SPRTN
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
STK33
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SYCE1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TAF4B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TBC1D25
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TDRD1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TDRKH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TSGA10
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TTLL5
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
likely pathogenic, low penetrance |
risk factor |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
97
|
33
|
939
|
1020
|
162
|
0 |
0 |
0 |
0 |
2251
|
Fulgent Genetics, Fulgent Genetics
|
9
|
52
|
461
|
85
|
4
|
0 |
0 |
0 |
0 |
611
|
OMIM
|
337
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
0 |
341
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
125
|
17
|
26
|
0 |
0 |
0 |
0 |
167
|
Institute of Reproductive Genetics, University of Münster
|
24
|
36
|
34
|
0 |
0 |
0 |
0 |
0 |
0 |
94
|
Baylor Genetics
|
3
|
5
|
39
|
0 |
0 |
0 |
0 |
0 |
0 |
47
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
10
|
8
|
26
|
0 |
0 |
0 |
0 |
0 |
0 |
44
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
43
|
0 |
0 |
0 |
0 |
43
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
3
|
14
|
15
|
1
|
0 |
0 |
0 |
0 |
0 |
33
|
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes
|
29
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
29
|
Revvity Omics, Revvity
|
2
|
4
|
20
|
0 |
0 |
0 |
0 |
0 |
0 |
26
|
Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh
|
2
|
3
|
14
|
5
|
0 |
0 |
0 |
0 |
0 |
24
|
SIB Swiss Institute of Bioinformatics
|
3
|
11
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
20
|
MAGI's Lab - Research, MAGI Group
|
2
|
0 |
15
|
0 |
0 |
0 |
0 |
0 |
0 |
17
|
Huzhibin Lab, Nanjing Medical University
|
4
|
4
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
4
|
2
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
2
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Center for Advanced Diagnostics, Brigham and Women's Hospital
|
12
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Institute of Reproductive and Stem Cell Engineering, Central South University
|
7
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
MGZ Medical Genetics Center
|
0 |
2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Clinical Bioinformatic Lab, Royan Institute
|
4
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
6
|
Diagnostic Laboratory, Strasbourg University Hospital
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Molecular and Cell Genetics Laboratory, University of Science and Technology of China
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Hereditary Hearing Loss Research Unit, University of Madras
|
1
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Mendelics
|
2
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Dept of Molecular Biology and Genetics, Bogazici University
|
1
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
MVZ Medizinische Genetik Mainz
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Reproductive Endocrinology and immunology College of Medicine, National Cheng Kung University
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Marseille Medical Genetics, U1251, Aix Marseille University, Inserm
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Fuxi Zhu Research Group, Second Affiliated Hospital of Anhui Medical University
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Research lab, Institute of Genetics and Molecular and Cellular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Academic Center for Education, Culture and Research, Motamed Cancer Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genetics and Inherited Diseases, Taibah University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Unit of Andrology and Reproductive Medicine, University Hospital of Padua
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion, Medical Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Eurofins-Biomnis
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics, First Genomix Laboratory
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio De Citogenetica, Instituto De Assistencia Medica Ao Servidor Publico Do Estado De Sao Paulo
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Cheikh Anta Diop University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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