ClinVar Miner

Variants studied for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 affects drug response other not provided total
1725 1555 6668 2170 1375 40 2 8 187 12600

Gene and significance breakdown #

Total genes and gene combinations: 248
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects drug response other not provided total
DIAPH1 24 8 754 559 41 0 0 0 0 1364
MYO7A 104 150 416 97 96 0 0 0 1 716
TBC1D24 63 18 330 238 21 0 0 0 2 662
MYO15A 162 100 371 24 44 0 0 0 5 647
CDH23 40 46 399 38 63 0 0 0 3 557
LOXHD1 29 80 353 78 50 0 0 0 2 504
SLC26A4 168 172 155 28 7 39 0 8 1 458
WFS1 28 22 226 102 58 0 0 0 5 419
OTOF 70 53 197 31 24 0 0 0 86 393
ACTG1 12 23 61 210 58 0 0 0 1 351
GJB2 109 103 129 34 26 0 0 0 28 299
MYH9 10 3 158 92 37 0 0 0 1 295
PCDH15 45 114 76 12 15 0 0 0 0 256
MYH14 9 6 151 31 55 0 0 0 2 250
MYO6 17 13 172 42 55 0 0 0 0 232
MET 1 0 217 1 5 0 0 0 0 224
TBCEL-TECTA, TECTA 28 17 162 35 29 0 0 0 1 219
USH1C 25 69 84 16 38 0 0 0 0 216
MYO3A 14 14 125 15 31 0 0 0 0 187
WHRN 4 3 121 9 17 0 0 0 1 152
TMPRSS3 29 25 86 10 15 0 0 0 0 149
TMC1 35 29 77 12 13 0 0 0 1 137
DCDC2 7 5 52 57 12 0 0 0 0 128
RDX 10 7 103 7 2 0 0 0 0 127
KCNJ10 4 3 96 18 3 0 0 0 0 123
LHFPL5 11 5 95 5 5 0 0 0 0 118
SIX1 7 7 50 40 13 0 0 0 0 108
OTOG 23 18 48 4 11 0 0 0 1 102
TRIOBP 29 11 33 10 20 0 0 0 1 97
KCNQ4 26 9 32 12 17 0 0 0 8 96
SLC17A8 3 2 60 10 14 0 0 0 0 87
GSDME 7 3 39 13 24 0 0 0 0 85
ESRRB 6 3 63 5 7 0 0 0 0 82
NLRP3 3 2 51 23 1 0 0 0 0 79
TRMU 8 66 3 3 0 0 0 0 0 79
EYA4, TARID 4 3 44 12 15 0 0 0 0 77
STRC 29 20 11 8 10 0 0 0 3 75
TNC 3 2 20 3 48 0 0 0 0 74
GJB6 5 2 39 19 9 0 0 0 2 72
CLDN14 8 5 48 5 7 0 0 0 0 68
MARVELD2 7 8 51 0 2 0 0 0 0 65
COL11A2 7 8 28 4 16 0 0 0 2 64
OTOGL 16 17 25 0 5 0 0 0 3 63
COL11A1 6 9 26 3 18 0 0 0 1 62
COL4A6 1 4 6 3 48 0 0 0 0 62
LOC127814297, POU4F3 18 10 29 1 5 0 0 0 2 62
POU3F4 28 11 11 3 6 0 0 0 3 59
C10orf105, CDH23 3 5 41 4 8 0 0 0 0 58
PJVK 15 5 39 1 2 0 0 0 0 58
FOXI1 2 0 44 6 6 0 0 0 0 57
EYA4 9 5 29 5 9 0 0 0 0 56
PTPRQ 11 11 20 2 13 0 0 0 2 56
OTOA 14 18 21 0 9 0 0 0 0 55
TMIE 8 4 36 3 2 0 0 0 0 50
COCH, LOC100506071 17 4 14 9 10 0 0 0 0 49
PDZD7 14 12 16 2 8 0 0 0 1 45
PRPS1 7 1 18 9 6 0 0 0 5 40
GRXCR1 8 5 19 1 5 0 0 0 0 36
ANAPC15, LRTOMT, TOMT 1 2 30 1 1 0 0 0 0 35
CDH23, PSAP 0 0 22 11 7 0 0 0 0 33
SLC12A2 5 0 10 16 2 0 0 0 0 32
ILDR1 11 10 9 0 3 0 0 0 0 29
AIFM1, RAB33A 5 16 4 4 2 0 0 0 0 28
DMXL2 2 4 8 2 12 0 0 0 0 27
PNPT1 9 1 9 1 6 0 0 0 1 27
ESPN 7 6 9 4 0 0 0 0 0 25
GIPC3 7 7 5 4 1 0 0 0 0 24
LOC126861365, TBCEL-TECTA, TECTA 2 3 17 3 3 0 0 0 0 23
LOC123956210, SLC26A4 15 6 3 3 0 1 0 0 0 22
BDP1 1 0 5 2 12 0 0 0 1 20
GJB3 5 2 9 3 1 0 0 0 0 20
TPRN 6 3 7 0 4 0 0 0 0 19
CCDC50 2 0 5 0 11 0 0 0 0 18
CEACAM16 7 3 6 2 0 0 0 0 0 18
COCH 0 0 9 6 3 0 0 0 0 18
SMPX 5 4 8 0 1 0 0 0 0 18
ANAPC15, LRTOMT 0 0 15 2 0 0 0 0 0 17
DIAPH3 3 0 9 2 4 0 0 0 0 17
LRTOMT, TOMT 6 2 11 0 0 0 0 0 0 17
SLC26A5 3 2 7 1 5 0 0 0 1 17
CDC14A 8 4 2 1 3 0 0 0 0 16
LOC112840921, OTOF 1 6 10 2 1 0 0 0 1 16
P2RX2 2 1 7 1 4 0 0 0 1 16
DCDC2, KAAG1 1 0 5 8 1 0 0 0 0 15
EPS8 2 4 5 3 0 0 0 0 2 14
KARS1 5 2 5 2 1 0 0 0 0 14
LRRC51, LRTOMT 1 0 13 0 2 0 0 0 0 14
ACTG1, LOC130061940 1 1 1 6 7 0 0 0 0 13
ATP2B2 7 2 3 0 0 0 0 0 1 13
EPS8L2 4 0 5 0 4 0 0 0 0 13
LOC126863137, MYH9 0 0 5 6 2 0 0 0 0 13
SERPINB6 1 2 4 1 5 0 0 0 0 13
TRRAP 1 2 8 0 2 0 0 0 1 13
CABP2 3 5 4 1 1 0 0 0 0 12
LMX1A 4 2 4 0 2 0 0 0 0 12
MAP1B 2 1 7 2 0 0 0 0 0 12
MPZL2 6 8 0 0 0 0 0 0 0 12
CRYM 2 0 5 1 3 0 0 0 0 11
HGF 3 0 4 1 3 0 0 0 0 11
CDH23, LOC111982869 1 3 7 0 0 0 0 0 0 10
LOC129992166, WFS1 0 0 7 3 0 0 0 0 0 10
MIR9718, SIX1 0 0 9 1 0 0 0 0 0 10
MSRB3 3 5 3 0 0 0 0 0 0 10
OSBPL2 4 0 2 0 4 0 0 0 0 10
PDE1C 1 3 1 1 5 0 0 0 0 10
PLS1 4 1 6 0 2 0 0 0 0 10
RIPOR2 2 1 2 1 4 0 0 0 0 10
SYNE4 4 3 2 0 2 0 0 0 0 10
TMEM132E 3 0 4 1 2 0 0 0 0 10
CIB2 4 4 3 1 0 0 0 0 0 9
LRTOMT 0 0 8 1 0 0 0 0 0 9
SLC44A4 1 0 1 0 7 0 0 0 0 9
SPNS2 2 0 0 1 6 0 0 0 0 9
USH2A 5 3 1 0 0 0 0 0 0 9
ADCY1 1 0 1 1 5 0 0 0 0 8
GRHL2 1 0 3 1 3 0 0 0 0 8
LRTOMT, NUMA1 0 0 7 1 0 0 0 0 0 8
MCM2 1 1 5 0 2 0 0 0 0 8
MYO1A 0 0 4 4 0 0 0 0 0 8
ROR1 1 0 2 1 4 0 0 0 0 8
TSPEAR 0 0 6 2 0 0 0 0 0 8
WBP2 3 1 1 0 3 0 0 0 0 8
GREB1L 1 2 2 0 2 0 0 0 0 7
NARS2 1 1 2 1 2 0 0 0 1 7
CLIC5 2 1 2 1 0 0 0 0 0 6
ELMOD3 2 0 4 1 0 0 0 0 0 6
ESRP1 2 0 0 0 4 0 0 0 0 6
GREB1L, LOC101927521 3 0 4 0 0 0 0 0 0 6
KITLG 2 2 1 1 0 0 0 0 0 6
LOC129994526, SLC12A2 0 0 4 2 0 0 0 0 0 6
PKHD1L1 6 0 0 0 0 0 0 0 0 6
CLDN9 3 2 1 0 0 0 0 0 0 5
DIABLO 1 1 2 0 1 0 0 0 0 5
GPSM2 2 1 1 1 0 0 0 0 0 5
HOMER2 3 0 2 0 0 0 0 0 0 5
LOC105371566, MYO15A 0 0 5 0 0 0 0 0 0 5
PJVK, PRKRA 0 0 0 5 0 0 0 0 0 5
TJP2 3 2 0 0 0 0 0 0 0 5
AFG2B 4 0 0 0 0 0 0 0 0 4
ATP11A 1 1 2 0 0 0 0 0 0 4
GRXCR2 2 0 1 0 1 0 0 0 0 4
LHFPL5, LOC129996260 0 0 3 1 0 0 0 0 0 4
LOC105378311, PCDH15 2 1 1 0 0 0 0 0 0 4
PI4KB 4 0 0 0 0 0 0 0 0 4
REST 2 0 0 2 0 0 0 0 0 4
S1PR2 2 0 1 0 1 0 0 0 0 4
​intergenic 3 0 0 0 0 0 0 0 0 3
CRYL1, GJB6 2 0 1 0 0 0 0 0 0 3
FRMD5, STRC 3 0 0 0 0 0 0 0 0 3
GPR156 2 3 0 0 0 0 0 0 0 3
KARS1, LOC126862402 1 1 2 0 0 0 0 0 0 3
LOC112695089, MYH9 0 0 3 0 0 0 0 0 0 3
LOC126653398, TSPEAR 1 0 1 0 0 0 0 0 1 3
LOC126861538, MYO1A 0 0 2 2 0 0 0 0 0 3
LOC129933334, OTOF 1 0 2 0 0 0 0 0 1 3
LOC130060418, MYO15A 2 0 1 0 0 0 0 0 0 3
MINAR2 3 0 0 0 0 0 0 0 0 3
MT-RNR1 3 0 0 0 0 0 0 0 0 3
TRIO 0 2 1 0 0 0 0 0 0 3
USP48 2 0 1 0 0 0 0 0 0 3
AIFM1, LOC130068679, RAB33A 0 1 0 1 0 0 0 0 0 2
ANKRD36 0 2 0 0 0 0 0 0 0 2
B3GNT4, DIABLO 0 1 1 0 0 0 0 0 0 2
BSND 1 1 0 0 0 0 0 0 0 2
CATSPER2, CKMT1A, CKMT1B, PDIA3, PPIP5K1, STRC 1 1 0 0 0 0 0 0 0 2
CATSPER2, CKMT1B, STRC 2 0 0 0 0 0 0 0 0 2
CCNF, TBC1D24 0 1 2 1 0 0 0 0 0 2
CIB2, LOC130057683 0 0 2 0 0 0 0 0 0 2
CLRN2 1 0 1 0 0 0 0 0 0 2
COL4A5 0 0 2 0 0 0 0 0 0 2
CRYM, LOC130058620 0 0 2 0 0 0 0 0 0 2
EPHA10 1 0 1 0 0 0 0 0 0 2
GAB1 1 0 1 0 0 0 0 0 0 2
GSDME, LOC129998098 0 0 0 1 1 0 0 0 0 2
GSDME, LOC129998104 0 0 2 0 0 0 0 0 0 2
LARS2 2 0 0 0 0 0 0 0 0 2
LOC126057105, TBL1Y 1 0 0 1 0 0 0 0 0 2
LOC126863145, TRIOBP 0 0 2 0 0 0 0 0 0 2
LOC130055766, SIX1 0 0 2 0 0 0 0 0 0 2
LOC130060416, MYO15A 1 0 1 0 0 0 0 0 0 2
MIR96 2 0 0 0 0 0 0 0 0 2
MITF 1 0 1 0 0 0 0 0 0 2
PPIP5K2 1 0 1 0 0 0 0 0 0 2
TMTC4 2 0 0 0 0 0 0 0 0 2
USH1G 0 2 0 0 0 0 0 0 0 2
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, EME2, FAHD1, GFER, HAGH, HS3ST6, IGFALS, MEIOB, MIR1225, MLST8, MRPS34, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PKD1, RAB26, RNF151, RNPS1, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBC1D24, TBL3, TEDC2, TRAF7, TSC2, ZNF598 0 0 1 0 0 0 0 0 0 1
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, MIR1225, MLST8, NTN3, PGP, PKD1, RAB26, RNPS1, TBC1D24, TEDC2, TRAF7, TSC2 0 0 1 0 0 0 0 0 0 1
ABCC1 1 0 0 0 0 0 0 0 0 1
ADGRV1 0 1 0 0 0 0 0 0 0 1
AFG2B, LOC130056998 1 0 0 0 0 0 0 0 0 1
AMDHD2, ATP6V0C, BICDL2, CEMP1, CLDN6, CLDN9, ELOB, FLYWCH1, FLYWCH2, HCFC1R1, IL32, KCTD5, KREMEN2, MMP25, PAQR4, PDPK1, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SRRM2, TBC1D24, THOC6, TNFRSF12A, ZG16B, ZSCAN10 1 0 0 0 0 0 0 0 0 1
ANAPC15, LRTOMT, MYH9, TOMT 0 1 0 0 0 0 0 0 0 1
ATOH1 1 0 0 0 0 0 0 0 0 1
ATP11A, LOC130010167 1 0 0 0 0 0 0 0 0 1
CATSPER2, CKMT1A, CKMT1B, LOC130056948, LOC130056949, STRC 1 0 0 0 0 0 0 0 0 1
CATSPER2, CKMT1B, PPIP5K1, STRC 1 0 0 0 0 0 0 0 0 1
CATSPER2, LOC130056948, LOC130056949, STRC 1 0 0 0 0 0 0 0 0 1
CD164 1 1 0 0 0 0 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 0 0 0 1
CIB2, SH2D7 0 1 0 0 0 0 0 0 0 1
CLCC1, GPSM2 0 0 1 0 0 0 0 0 0 1
CLCNKA, LOC106501712 0 1 0 0 0 0 0 0 0 1
CNRIP1, LOC101927723, LOC115945159, LOC122757962, LOC129933976, LOC129933977, LOC129933978, LOC129933979, LOC129933980, LOC129933981, LOC129933982, LOC129933983, LOC129933984, LOC129933985, LOC129933986, LOC129933987, LOC129933988, LOC129933989, LOC129933990, LOC129933991, LOC132088853, LOC132088854, PLEK, PPP3R1 1 0 0 0 0 0 0 0 0 1
COL11A1, LOC126805814 0 0 1 0 0 0 0 0 0 1
COL11A1, RNPC3 0 1 0 0 0 0 0 0 0 1
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, LOC130009312, LOC130009313, LOC130009314, LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC132090175, MIR4499, XPO4 0 0 1 0 0 0 0 0 0 1
CRYL1, GJB2, GJB6, LOC112163647, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC132090175, MIR4499 1 0 0 0 0 0 0 0 0 1
CRYL1, GJB2, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, MIR4499 1 0 0 0 0 0 0 0 0 1
CRYL1, GJB6, LOC112163647, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC132090175, MIR4499 1 0 0 0 0 0 0 0 0 1
DELEC1, PAPPA, TNC, TNFSF8 0 0 1 0 0 0 0 0 0 1
EDNRB 0 1 0 0 0 0 0 0 0 1
EPS8L2, LOC130005076 0 0 1 0 0 0 0 0 0 1
ERCC8 0 1 0 0 0 0 0 0 0 1
EYA4, LOC126859796, TARID 0 0 1 0 0 0 0 0 0 1
GAS2 1 0 0 0 0 0 0 0 0 1
GJB2, GJB6 0 0 1 0 0 0 0 0 0 1
GJB4 0 0 1 0 0 0 0 0 0 1
GOSR2, LRRC37A2 0 1 0 0 0 0 0 0 0 1
GRAP 1 1 0 0 0 0 0 0 0 1
GRHL2, LOC126860461 1 0 0 0 0 0 0 0 0 1
HERC2 0 0 0 0 0 0 0 0 1 1
IGSF6, LOC130058625, LOC130058626, LOC130058627, METTL9, OTOA 1 0 0 0 0 0 0 0 0 1
IGSF6, METTL9, NPIPB4, OTOA, UQCRC2 1 0 0 0 0 0 0 0 0 1
IGSF6, METTL9, OTOA 1 0 0 0 0 0 0 0 0 1
KCNQ4, LOC129930282 1 0 0 0 0 0 0 0 0 1
KRTAP10-1, TSPEAR 0 0 1 0 0 0 0 0 0 1
KRTAP10-12, TSPEAR 0 0 0 1 0 0 0 0 0 1
KRTAP10-3, TSPEAR 0 0 0 1 0 0 0 0 0 1
LOC121852992, MYH14 0 0 1 0 0 0 0 0 0 1
LOC124292588, LOC130001864, LOC130001865, LOC130001866, LOC130001867, TJP2 1 0 0 0 0 0 0 0 0 1
LOC126860741, TNC 0 0 0 0 1 0 0 0 0 1
LOC129933336, OTOF 0 0 1 0 0 0 0 0 0 1
LOC129933770, PNPT1 0 1 0 0 0 0 0 0 0 1
LOC129996737, MYO6 0 0 1 0 0 0 0 0 0 1
LOC130003092, TMEM203, TPRN 1 0 0 0 0 0 0 0 0 1
LOC130003093, TPRN 1 0 0 0 0 0 0 0 0 1
MNAT1, SIX1, SIX4, SIX6, TRMT5 0 0 1 0 0 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 0 0 1 0 0 1
MT-RNR1, MT-TS1 1 0 0 0 0 0 1 0 0 1
OBSCN 1 0 0 0 0 0 0 0 0 1
PCDH15, USH1G 1 0 0 0 0 0 0 0 0 1
RAI1 1 0 0 0 0 0 0 0 0 1
SCD5 1 0 0 0 0 0 0 0 0 1
SIX1, SIX4, SIX6 0 0 1 0 0 0 0 0 0 1
STX4 1 0 0 0 0 0 0 0 0 1
THOC1 1 0 0 0 0 0 0 0 0 1
TOGARAM2 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 231
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects drug response other not provided total
Illumina Laboratory Services, Illumina 19 13 3245 556 575 0 0 0 0 4182
Labcorp Genetics (formerly Invitae), Labcorp 97 33 1193 1093 129 0 0 0 0 2545
Fulgent Genetics, Fulgent Genetics 143 91 833 330 68 0 0 0 0 1465
Genome-Nilou Lab 37 33 147 56 695 0 0 0 0 961
Baylor Genetics 202 317 385 0 0 0 0 0 0 902
Counsyl 51 173 242 45 2 0 0 0 0 513
OMIM 497 0 9 0 0 0 0 0 0 506
Natera, Inc. 54 18 175 58 44 0 0 0 0 349
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 89 32 100 3 1 0 0 0 0 225
3billion 70 43 56 3 0 0 0 0 0 172
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 101 53 0 0 3 0 0 0 0 157
University of Washington Center for Mendelian Genomics, University of Washington 0 156 1 0 0 0 0 0 0 157
Revvity Omics, Revvity 31 34 88 2 0 0 0 0 0 155
Laboratory of Prof. Karen Avraham, Tel Aviv University 104 49 0 0 0 0 0 0 0 153
Juno Genomics, Hangzhou Juno Genomics, Inc 53 40 51 0 0 0 0 0 0 144
King Laboratory, University of Washington 65 78 0 0 0 0 0 0 0 143
GeneReviews 13 0 0 0 1 0 0 0 129 143
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 59 29 32 0 0 0 0 0 0 120
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 4 27 19 67 0 0 0 0 117
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 61 41 6 10 0 0 0 0 0 117
Molecular Diagnosis Center for Deafness 55 23 30 0 1 0 0 0 0 109
ClinGen Hearing Loss Variant Curation Expert Panel 28 20 18 15 15 0 0 0 0 96
Neuberg Centre For Genomic Medicine, NCGM 8 24 50 0 0 0 0 0 0 82
Division of Human Genetics, Children's Hospital of Philadelphia 13 8 50 0 0 0 0 0 1 72
Mendelics 18 8 13 6 26 0 0 0 0 71
INGEBI, INGEBI / CONICET 40 6 12 4 8 0 0 0 0 70
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 21 12 31 1 0 0 0 0 0 65
WangQJ Lab, Chinese People's Liberation Army General Hospital 10 19 33 0 0 0 0 0 0 62
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 4 2 0 0 0 40 0 8 0 54
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 24 5 13 3 5 0 0 0 0 50
Myriad Genetics, Inc. 15 24 7 0 0 0 0 0 0 46
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 28 17 0 0 0 0 0 0 0 45
Genomic Research Center, Shahid Beheshti University of Medical Sciences 7 8 24 3 0 0 0 0 3 44
Center of Genomic medicine, Geneva, University Hospital of Geneva 24 9 10 0 0 0 0 0 0 43
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 4 27 0 1 0 0 0 0 41
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 39 1 0 0 0 0 0 0 0 40
Institute of Human Genetics, University of Leipzig Medical Center 9 9 15 4 1 0 0 0 0 38
National Institute on Deafness and Communication Disorders, National Institutes of Health 35 1 1 0 0 0 0 0 0 37
Hereditary Research Laboratory, Bethlehem University 37 0 0 0 0 0 0 0 0 37
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 36 36
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 1 15 10 5 0 0 0 0 34
MGZ Medical Genetics Center 17 5 8 0 0 0 0 0 0 30
Laboratory of Human Genetics, Universidade de São Paulo 16 11 1 0 0 0 0 0 0 28
Institute of Human Genetics, University of Goettingen 2 5 19 1 0 0 0 0 0 27
Precision Medicine Center, Zhengzhou University 16 9 0 1 0 0 0 0 0 26
ClinVar Staff, National Center for Biotechnology Information (NCBI) 20 0 0 0 0 0 0 0 4 24
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 10 5 8 1 0 0 0 0 0 24
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 13 4 6 0 0 0 0 0 0 23
MVZ Medizinische Genetik Mainz 2 7 13 0 0 0 0 0 0 22
Knight Diagnostic Laboratories, Oregon Health and Sciences University 12 7 3 0 0 0 0 0 0 21
SIB Swiss Institute of Bioinformatics 6 9 6 0 0 0 0 0 0 21
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 2 13 0 0 0 0 0 0 21
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 16 4 1 0 0 0 0 0 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 15 0 0 0 0 0 0 1 20
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 3 15 0 0 0 0 0 0 20
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 1 14 0 0 0 0 0 0 20
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 14 0 0 0 0 0 0 0 20
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 7 5 7 0 0 0 0 0 0 19
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 1 15 0 0 0 0 0 0 18
Center for Statistical Genetics, Columbia University 14 2 2 0 0 0 0 0 0 18
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 6 0 0 0 0 2 0 0 17
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 3 10 0 0 0 0 0 0 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 3 4 0 0 0 0 0 0 16
Deafness Gene Diagnosis, Xijing Hospital 0 14 0 1 0 0 0 0 0 15
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 12 2 1 0 0 0 0 0 0 15
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 5 4 6 0 0 0 0 0 0 15
Molecular Genetics, Royal Melbourne Hospital 6 0 7 1 0 0 0 0 0 14
Dr.Nikuei Genetic Center 11 1 1 1 0 0 0 0 0 14
New York Genome Center 2 0 11 0 0 0 0 0 0 13
Genomics England Pilot Project, Genomics England 2 11 0 0 0 0 0 0 0 13
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 7 4 0 0 0 0 0 0 12
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 12 0 0 0 0 0 0 0 0 12
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 2 4 6 0 0 0 0 0 0 12
Department of Human Genetics, Hannover Medical School 0 3 9 0 0 0 0 0 0 12
Institute of Human Genetics, University of Wuerzburg 3 3 5 0 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 11 0 0 0 0 11
Pars Genome Lab 2 1 0 3 6 0 0 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 3 3 0 0 0 0 0 0 10
Center for Molecular Medicine, Children’s Hospital of Fudan University 3 6 1 0 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 7 1 2 0 0 0 0 0 0 10
Genetics Department, Hospital Ramon y Cajal-IRYCIS 9 1 0 0 0 0 0 0 0 10
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital 2 5 3 0 0 0 0 0 0 10
UAEU Genomics Laboratory, United Arab Emirates University 5 1 4 0 0 0 0 0 0 10
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 6 1 2 0 0 0 0 0 0 9
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 2 4 0 0 0 0 0 0 9
DASA 8 1 0 0 0 0 0 0 0 9
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 9 9
Hereditary Hearing Loss Research Unit, University of Madras 5 2 1 0 0 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 4 1 3 0 0 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 5 0 0 0 0 0 0 0 7
Department of Molecular and Human Genetics, Baylor College of Medicine 7 0 0 0 0 0 0 0 0 7
Wangler Lab, Baylor College of Medicine 2 1 4 0 0 0 0 0 0 7
Genetics Laboratory, Department of Biology, Semnan University 6 1 0 0 0 0 0 0 0 7
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 3 2 2 0 0 0 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 5 0 0 0 0 0 0 7
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 6 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 1 0 0 0 0 0 0 6
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 2 3 0 0 0 0 0 0 6
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 2 3 1 0 0 0 0 0 0 6
Payam Genetics Center, General Welfare Department of North Khorasan Province 5 1 0 0 0 0 0 0 0 6
Daryl Scott Lab, Baylor College of Medicine 1 0 3 1 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 3 0 0 0 0 0 0 0 5
Santos-Cortez Lab, University of Colorado School of Medicine 0 5 0 0 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 3 0 0 0 0 5
GeneID Lab - Advanced Molecular Diagnostics 0 5 0 0 0 0 0 0 0 5
Laboratory of Molecular Genetics, Montpellier University Hospital 1 4 0 0 0 0 0 0 0 5
Lifecell International Pvt. Ltd 3 2 0 0 0 0 0 0 0 5
Institute of Human Genetics, Cologne University 3 1 0 0 0 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 3 0 0 0 0 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 3 1 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 3 0 0 0 0 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 0 0 0 0 4
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 4 0 0 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 2 0 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 1 0 0 0 0 0 0 4
Breda Genetics srl 1 0 3 0 0 0 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 3 0 0 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 2 0 0 0 0 0 0 4
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences 2 1 1 0 0 0 0 0 0 4
Mustafa Tekin Lab, University Of Miami, Miller School Of Medicine 0 4 0 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 0 0 3
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 0 0 3 0 0 0 0 0 0 3
Division of Medical Genetics; Sainte-Justine Hospital 3 0 0 0 0 0 0 0 0 3
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 3 0 0 0 0 0 0 0 0 3
The Genetic Institute, Ha'emek Medical center, Ha'emek Medical Center 3 0 0 0 0 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 2 1 0 0 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 2 0 0 0 0 0 0 0 3
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 2 1 0 0 0 0 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 2 0 0 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 3 3
Suma Genomics 3 0 0 0 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 1 0 0 0 0 0 0 0 3
Institute of Otorhinolaryngology, The First affiliated hospital, Sun Yat-sen University 2 0 0 0 0 0 0 0 0 2
Molecular Genetics and RNA Biology, University of Milan 2 0 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 0 2
Centre de Biotechnologie de Sfax, Université de Sfax 2 0 0 0 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 0 0 2
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 2 0 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 0 0 2
Human Genetics Research Lab, Central University of Jammu 2 0 0 0 0 0 0 0 0 2
University of Arizona Genetics Core, University of Arizona 2 0 0 0 0 0 0 0 0 2
Research Group Niklas Dahl, Uppsala University 2 0 0 0 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 1 1 0 0 0 0 0 0 2
Tehran Medical Genetics Laboratory 0 2 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 0 0 0 0 0 2
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems 1 1 0 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 2 0 0 0 0 0 0 2
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 1 0 0 0 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 0 0 0 0 0 0 2
Laboratory of Molecular Medicine of IMOMA, Instituto de Medicina Oncológica y Molecular de Asturias 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 0 0 0 0 2
Nanfang Hospital, Southern Medical University 2 0 0 0 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 1 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 0 2
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco 2 0 0 0 0 0 0 0 0 2
Institute for Pharmacology and Toxicology, Paracelsus Medical University 0 0 0 0 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 2 0 0 0 0 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 2 0 0 0 0 0 0 0 0 2
Shenzhen Maternity and Child Healthcare Hospital, Institute of Maternal and Child Medicine Research 2 0 0 0 0 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 1 0 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 0 0 0 1
Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital 0 0 0 0 0 0 0 0 1 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 0 0 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 1
Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon 0 0 1 0 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 0 1 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics, National Institutes of Health 0 1 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Hereditary Risk Evalutation Team, Medical School Hannover 0 0 1 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 0 1
Genetics, Medical University of Vienna 0 1 0 0 0 0 0 0 0 1
Leeds Institute of Biomedical and Clinical Sciences, University of Leeds 1 0 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 0 0 0 0 1
Dr. Liu's Molecular Genetics Laboratory, University of Miami Miller School of Medicine 0 1 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 0 0 0 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 0 0 0 1 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 1 0 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 0 1
Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics 0 1 0 0 0 0 0 0 0 1
Medical Genetic Team, CHRU Montpellier 0 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 0 1
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 0 0 1
Molecular Diagnostics Lab, Aalborg University Hospital 1 0 0 0 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, University of Cape Town 1 0 0 0 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Tabriz University of Medical Sciences 1 0 0 0 0 0 0 0 0 1
ColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital 1 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 0 1
Kunming Children's Hospital, Yunnan Key Laboratory of Children’s Major Disease Research 0 1 0 0 0 0 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 0 0 0 1
Department of Otorhinolaryngology, Xiangya Hospital Central South University 1 0 0 0 0 0 0 0 0 1
Hebei Molecular Diagnosis Lab for Deafness, the Second Hospital of Hebei Medical University 0 0 1 0 0 0 0 0 0 1
Young Lab, Memorial University 1 0 0 0 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 0 0 1
Epigenetics and Oncology Laboratory, Southwest Medical University 1 0 0 0 0 0 0 0 0 1
Federation de Genetique et Medecine Genomique, Hopital Necker 0 1 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 0 1
Department of Neurology, First People's Hospital of Wuhu 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Dr. Hideyo Noguchi Regional Research Center, Autonomous University of Yucatán 0 1 0 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 0 0 1
Otorhinolaryngology Head and Neck Surgery, First Medical Center of Chinese PLA General Hospital 0 1 0 0 0 0 0 0 0 1
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 0 1 0 0 0 0 0 0 0 1

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