ClinVar Miner

Variants studied for hypertrophic cardiomyopathy

Included ClinVar conditions (244):
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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 other not provided total
3167 2638 18677 12998 1935 2 1 176 37243

Gene and significance breakdown #

Total genes and gene combinations: 380
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
FLNC 300 103 1837 1883 182 0 0 4 4200
MYBPC3 635 297 1487 904 82 0 0 9 3096
MYH7 152 264 1431 869 60 0 0 7 2560
ACADVL 312 393 599 687 32 0 0 2 1670
TTN 29 102 1118 171 29 0 0 19 1463
MYH6 5 2 736 534 83 0 0 5 1329
MYOM1 0 1 729 437 94 0 0 0 1258
CDKN1C 93 12 541 498 27 0 0 1 1146
SOS2 8 8 558 522 94 0 0 1 1127
ACTN2 5 1 491 533 99 0 0 1 1103
MYPN 32 18 620 385 56 0 0 1 1083
ETFDH 155 174 231 362 21 0 0 0 847
SPRED1 104 33 360 185 40 0 0 2 701
TNNT2 45 63 326 231 40 0 0 0 629
ACTC1, GJD2-DT 7 14 332 228 16 0 0 1 570
TPM1 14 33 320 201 12 0 0 3 547
HRAS, LRRC56 25 28 263 241 11 0 0 1 546
JPH2 4 2 322 197 30 0 0 1 542
TNNI3 34 36 293 183 12 1 0 0 513
SOS1 27 32 319 117 50 0 0 2 506
GAREM2, HADHA 65 71 108 262 20 0 0 0 474
ETFA 40 55 123 262 20 0 0 0 467
MYLK2 0 0 234 188 27 0 0 0 440
HADHA 55 61 81 246 14 0 0 0 423
PRKAG2 11 6 237 119 16 0 0 0 375
NEXN 26 6 211 111 17 0 0 3 359
CSRP3 16 15 224 95 11 0 0 1 341
MYL2 11 15 195 121 13 0 0 2 334
MYL3 7 12 224 103 15 0 0 3 333
PTPN11 88 64 147 40 42 0 0 17 315
LOC126861897, MHRT, MYH7 7 12 182 114 7 0 0 0 311
ILK, TAF10 0 0 153 113 14 0 0 0 279
LOC126861898, MYH7 40 70 129 70 6 0 0 0 279
PDLIM3 0 0 185 76 18 0 0 0 279
ETFB 20 27 83 147 9 0 0 0 271
TNNC1 6 5 151 101 7 0 0 0 257
CALR3 1 0 149 83 23 0 0 0 249
TCAP 21 6 155 73 6 0 0 1 248
RIT1 29 22 123 87 5 0 0 1 240
NR0B1 27 4 35 141 37 0 0 0 237
MHRT, MYH7 10 12 111 98 10 0 0 0 227
BRAF 47 70 76 45 21 0 0 24 222
MYO6 13 8 111 25 52 0 0 0 209
RRAS 0 0 115 85 9 0 0 0 209
DM1, DMPK, LOC107075317, LOC109461477 176 0 0 0 12 0 0 0 187
LZTR1 35 48 93 7 14 0 0 3 185
RAF1 26 35 102 38 30 0 0 5 173
LOC114827851, MYH6 0 0 90 58 16 0 0 1 162
LOC126861896, MYH6 0 0 99 49 15 0 0 0 161
MYOZ2 2 1 105 41 13 0 0 0 155
KRAS 25 23 54 44 5 0 0 2 142
LDB3 9 2 106 18 5 0 0 5 140
ZFPM2 4 1 48 53 34 0 0 0 134
VCL 2 1 104 14 6 0 0 8 133
MAP3K1 9 4 28 43 38 0 0 0 115
NRAS 12 19 66 21 7 0 0 5 115
SHOC2 5 7 64 14 27 0 0 1 107
ALPK3 17 23 45 5 11 0 0 0 100
MAP2K2 10 13 40 21 21 0 0 4 94
LOC114827850, MYL2 4 5 50 32 8 0 0 3 87
KCNQ1 18 11 45 9 0 0 0 0 83
LAMP2 3 9 39 28 3 0 0 0 81
ACADVL, LOC130060113 11 11 25 42 4 0 0 0 79
DHH 11 2 39 11 9 0 0 0 70
LOC126860469, ZFPM2 0 0 38 20 11 0 0 0 69
TP53 2 65 0 0 0 0 0 0 66
CBL 4 5 34 8 13 0 0 0 64
MAP2K1 13 20 16 10 9 0 0 7 62
ACADVL, DLG4 4 7 31 15 4 0 0 0 58
LOC126861897, MYH7 4 4 34 18 1 0 0 0 58
NR5A1 27 15 11 0 0 0 0 0 52
SRY 30 3 11 1 1 0 0 0 46
FHOD3 3 2 36 0 1 0 0 0 41
NSD1 25 6 6 3 1 0 0 0 41
SLC25A3 3 0 27 2 6 0 0 0 38
LOC126805765, NEXN 3 1 19 12 1 0 0 0 36
RYR2 0 0 33 1 0 0 0 0 33
LOC129993918, MAP3K1 0 0 12 6 15 0 0 0 32
DHX37 6 2 7 1 15 0 0 0 29
CAV3, OXTR 1 2 22 2 0 0 0 0 27
FLNC, LOC129999273 2 0 10 13 2 0 0 0 27
DSP 0 0 19 3 4 0 0 1 26
HMGCL 6 3 14 1 2 0 0 0 26
LOC126807246, PDLIM3 0 0 14 7 4 0 0 0 25
CEP85L, PLN 4 2 19 0 0 0 0 0 24
LOC130055588, SOS2 0 0 11 10 1 0 0 0 21
DNAAF3, TNNI3 0 1 1 17 5 0 0 0 20
GLA, RPL36A-HNRNPH2 3 5 6 5 3 0 0 0 20
LOC101927055, TTN 0 1 14 3 1 0 0 0 19
LOC132089829, MYPN 1 0 6 11 2 0 0 0 19
TRIM63 3 2 15 2 0 0 0 0 18
LOC126806424, TTN 0 2 10 5 0 0 0 0 17
LOC126806422, TTN 0 0 12 3 1 0 0 0 16
DMPK 5 1 7 0 2 0 0 0 15
ILK, LOC130005201 0 0 6 8 1 0 0 0 15
LOC126806423, TTN 1 2 10 1 1 0 0 0 15
LOC126806425, TTN 0 2 12 1 0 0 0 0 15
LOC126807392, MAP3K1 0 0 6 3 6 0 0 0 15
LOC129933535, SOS1 0 0 8 6 2 0 0 0 15
LDB3, LOC110121486 2 0 8 0 3 0 0 1 14
LIG4 2 0 12 0 0 0 0 0 14
LOC126806421, TTN 0 1 13 0 0 0 0 0 14
PPP1CB 6 5 1 2 1 0 0 0 14
RBM20 0 0 10 2 2 0 0 0 14
LOC126806428, TTN 0 0 11 2 0 0 0 0 13
SCN5A 0 0 13 0 0 0 0 0 13
ANKRD1 0 0 7 2 2 0 0 1 12
LOC126806420, TTN 0 0 10 1 0 0 0 0 11
LOC126806431, TTN 0 0 10 1 0 0 0 0 11
LOC126806432, TTN 0 0 10 1 0 0 0 0 11
MYH7B 3 6 2 0 0 0 0 0 11
BRAF, LOC126860202 0 0 8 2 1 0 0 0 10
FLAD1 9 0 0 1 0 0 0 0 10
HRAS 0 0 10 0 0 0 0 0 10
LAMA4 0 0 8 1 1 0 0 0 10
LOC126806433, TTN 0 0 10 0 0 0 0 0 10
LOC130067016, LZTR1 1 2 4 1 2 0 0 0 10
MIR208B, MYH6, MYH7 0 0 10 0 0 0 0 0 10
ABCC9 0 0 3 0 1 0 0 5 9
DSC2 0 0 3 5 1 0 0 0 9
DSG2 0 0 8 1 0 0 0 0 9
DM1, DMPK, LOC107075317, LOC109461477, LOC129929040 5 0 0 0 3 0 1 0 8
DMD 1 0 6 0 1 0 0 0 8
LMNA 2 1 5 0 0 0 0 0 8
MAP2K1, SNAPC5 0 0 6 2 1 0 0 0 8
MAPK1 4 2 2 0 0 0 0 0 8
H19, H19-ICR, MRPL23 1 0 0 0 0 0 0 6 7
JUP 0 0 4 1 2 0 0 0 7
MIR208A, MYH6, MYH7 0 0 7 0 0 0 0 0 7
PKP2 0 0 3 1 3 0 0 0 7
RRAS2 2 2 3 0 1 0 0 0 7
AKR1C2 3 0 2 0 1 0 0 0 6
ANK2 0 0 5 1 0 0 0 0 6
HADHA, HADHB 2 0 1 2 1 0 0 0 6
KLHL24 2 0 4 0 0 0 0 0 6
KRAS, LOC130007561 0 0 6 0 0 0 0 0 6
LOC126806427, TTN 0 1 3 1 1 0 0 0 6
LOC126806429, TTN 0 0 6 0 0 0 0 0 6
LOC129935183, TTN 0 0 6 0 0 0 0 0 6
LOC130004755, SHOC2 0 0 6 0 0 0 0 0 6
LOC130005368, RRAS2 5 1 0 0 0 0 0 0 6
NEBL 0 0 5 0 2 0 0 0 6
ACADL 0 0 5 0 0 0 0 0 5
B2M 0 5 0 0 0 0 0 0 5
BAG3 0 0 4 0 1 0 0 0 5
CBL, FRA11B, LOC130006894 0 0 5 0 0 0 0 0 5
CBX2 2 0 2 1 0 0 0 2 5
CTNNA3 0 0 5 0 0 0 0 0 5
DTNA 0 0 4 1 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 5
KCNH2 0 1 3 1 0 0 0 0 5
LOC126806426, TTN 0 1 3 1 0 0 0 0 5
LOC126806430, TTN 0 0 4 1 0 0 0 0 5
MRAS 3 0 2 0 0 0 0 0 5
TMPO 0 0 2 2 1 0 0 0 5
TNNI3, TNNT1 0 0 2 3 0 0 0 0 5
TRPM4 0 0 3 1 1 0 0 0 5
TXNRD2 0 0 5 0 0 0 0 0 5
​intergenic 3 0 0 0 1 0 0 0 4
ACADVL, DVL2 2 4 0 0 0 0 0 0 4
AKAP9 0 0 1 2 1 0 0 0 4
ALPK3, LOC111718493 0 1 2 1 0 0 0 0 4
CACNA1C 0 1 1 1 1 0 0 0 4
CBL, LOC130006895 0 0 2 1 1 0 0 0 4
CDK4 0 4 0 0 0 0 0 0 4
DES 0 1 3 0 0 0 0 0 4
FHL1 0 1 3 0 0 0 0 0 4
GATA4 1 0 0 0 3 0 0 0 4
KCNQ1, KCNQ1OT1 0 0 2 2 0 0 0 0 4
LOC129999660, PRKAG2 0 0 4 0 0 0 0 0 4
MIR208B, MYH7 0 0 4 0 0 0 0 0 4
PIK3CA 1 3 0 0 0 0 0 0 4
SPRED2 3 1 0 0 0 0 0 0 4
A2ML1 0 0 2 1 0 0 0 0 3
CAV3 1 0 1 1 0 0 0 0 3
CRYAB 0 0 3 1 0 0 0 0 3
CTF1, LOC130058878 0 0 2 1 0 0 0 0 3
DNMT1 0 0 3 0 0 0 0 0 3
FGFR3 3 1 0 0 0 0 0 0 3
HCN4 0 0 2 0 1 0 0 0 3
IDH2 0 3 0 0 0 0 0 0 3
LOC129931249, NRAS 0 0 2 1 0 0 0 0 3
LOC129935182, TTN 0 1 2 0 0 0 0 0 3
LOC130056789, SPRED1 0 0 2 1 0 0 0 0 3
LOC130063193, MAP2K2 0 0 3 0 0 0 0 0 3
MIR208A, MIR208B, MYH6, MYH7 0 0 3 0 0 0 0 0 3
MKRN2, RAF1 0 0 2 1 1 0 0 0 3
PTPN11, RPL6 0 0 2 1 1 0 0 0 3
TMEM43 1 0 1 1 0 0 0 0 3
TTR 0 0 2 0 1 0 0 0 3
ACTC1 0 0 2 0 0 0 0 0 2
ACTN2, MT1HL1, MTR, RYR2 0 0 2 0 0 0 0 0 2
ATP6V1F, FLNC, IRF5, KCP, TNPO3 1 0 1 0 0 0 0 0 2
CALR3, LOC125371488 0 0 2 0 0 0 0 0 2
CCDC110, PDLIM3 0 0 2 0 0 0 0 0 2
CREBBP 0 1 0 0 0 0 0 1 2
CSRP3, IGSF22, LDHA, LDHAL6A, LDHC, MRGPRX1, MRGPRX2, PTPN5, SPTY2D1, TMEM86A, TSG101, UEVLD, ZDHHC13 1 0 1 0 0 0 0 0 2
DM1, DMPK, LOC107075317 0 0 2 0 0 0 0 0 2
DM1, DMPK, LOC107075317, LOC129929041 0 0 1 1 0 0 0 0 2
DMRT1 0 1 1 0 0 0 0 0 2
DNAAF3, LOC130065090, TNNI3 0 0 1 1 0 0 0 0 2
EMD 0 0 2 0 0 0 0 0 2
EMILIN2, LPIN2, MYOM1, SMCHD1 0 0 2 0 0 0 0 0 2
ERF 0 1 1 0 0 0 0 0 2
EYA4 0 0 1 0 1 0 0 0 2
FAT1 0 2 0 0 0 0 0 0 2
FKRP 0 0 0 0 2 0 0 0 2
FKTN 0 0 0 1 1 0 0 0 2
GAA 0 0 0 2 0 0 0 0 2
GTPBP3 0 0 2 0 0 0 0 0 2
H19-ICR, MRPL23 0 0 0 0 0 0 0 2 2
KCNE2, LOC105372791 0 0 1 0 1 0 0 0 2
KCNJ5 0 0 1 1 0 0 0 0 2
KCNJ8 0 0 0 2 0 0 0 0 2
KMT2C 0 2 0 0 0 0 0 0 2
LOC114827851, LOC126861897, MHRT, MIR208B, MYH6, MYH7 0 0 2 0 0 0 0 0 2
LOC126806067, RYR2 0 0 2 0 0 0 0 0 2
LOC126806068, RYR2 0 0 2 0 0 0 0 0 2
LOC126807619, LOC129995362, NSD1 2 0 0 0 0 0 0 0 2
LOC126807619, NSD1 1 1 0 0 0 0 0 0 2
LOC130056788, SPRED1 0 0 1 0 1 0 0 0 2
MADD, MYBPC3 1 0 1 0 0 0 0 0 2
MIB1 0 0 2 0 0 0 0 0 2
MIR208A, MYH6 0 0 2 0 0 0 0 0 2
MT-TI 2 0 0 0 0 0 0 0 2
MYBPC3, SLC39A13, SPI1 1 0 1 0 0 0 0 0 2
PMPCA 2 0 0 0 0 0 0 0 2
POLG 2 0 0 0 0 0 0 0 2
SLC30A5 0 2 0 0 0 0 0 0 2
SVIL 0 0 2 0 0 0 0 0 2
TET2 0 2 0 0 0 0 0 0 2
TGFB3 0 0 1 1 0 0 0 0 2
ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, ASGR2, ATP1B2, BACC1, BCL6B, C17orf100, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, MED31, MIR195, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 0 0 1
ACADVL, ACAP1, ALOX12B, ALOX15B, ALOXE3, ATP1B2, AURKB, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MPDU1, NAA38, NEURL4, NLGN2, PER1, PFAS, PHF23, PLSCR3, POLR2A, RANGRF, SAT2, SENP3, SHBG, SLC25A35, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, YBX2, ZBTB4 1 0 0 0 0 0 0 0 1
ACADVL, ACAP1, CHRNB1, CLDN7, CTDNEP1, DLG4, DVL2, EIF5A, ELP5, FGF11, GABARAP, GPS2, KCTD11, NEURL4, NLGN2, PHF23, PLSCR3, SLC2A4, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNK1, YBX2 1 0 0 0 0 0 0 0 1
ACADVL, ALOX12, ASGR1, ASGR2, BACC1, BCL6B, CLEC10A, DLG4, FBXO39, MIR195, MIR497HG, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, XAF1 1 0 0 0 0 0 0 0 1
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 0 0 1
ACTC1, GJD2, GOLGA8A, GOLGA8B, LPCAT4, NOP10, NUTM1, SLC12A6 0 0 1 0 0 0 0 0 1
ACTN2, LOC110121264, LOC110121265, LOC110121266, LOC122152347, LOC129388791, LOC129932885, LOC129932886, MT1HL1, MTR, RYR2 0 0 1 0 0 0 0 0 1
AKR1C2, LOC101928051 1 0 0 0 0 0 0 0 1
AKR1C4 0 0 0 0 0 1 0 0 1
ANK2, LOC126807136 0 0 1 0 0 0 0 0 1
ANKRD37, CCDC110, CFAP96, CFAP97, LOC105377590, LOC121056754, LOC123493248, LOC123493249, LOC123493250, LOC126807246, LOC129993502, LOC129993503, LOC129993504, LOC129993505, LOC129993506, LOC129993507, LOC129993508, LOC129993509, LOC129993510, LOC129993511, LOC129993512, LOC129993513, LOC129993514, LOC129993515, LOC129993516, LOC129993517, LOC129993518, LOC129993519, LOC129993520, LOC129993521, LOC129993522, LOC129993523, LRP2BP, PDLIM3, SLC25A4, SNX25, UFSP2 0 0 1 0 0 0 0 0 1
ANKRD37, CCDC110, CFAP96, CFAP97, LRP2BP, PDLIM3, SLC25A4, SNX25, UFSP2 0 0 1 0 0 0 0 0 1
ANO9, AP2A2, ASCL2, B4GALNT4, BRSK2, C11orf21, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NLRP6, PGGHG, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PSMD13, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4 0 0 1 0 0 0 0 0 1
ANO9, B4GALNT4, CDHR5, DEAF1, DRD4, EPS8L2, HRAS, IFITM1, IFITM2, IFITM3, IFITM5, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, NLRP6, PGGHG, PHRF1, PKP3, PTDSS2, RASSF7, RNH1, SCT, SIGIRR, TALDO1, TMEM80 1 0 0 0 0 0 0 0 1
AP3M1, VCL 0 0 1 0 0 0 0 0 1
APH1B, CA12, FBXL22, HERC1, LACTB, RAB8B, RPS27L, TPM1, USP3 0 0 1 0 0 0 0 0 1
AR 1 0 0 0 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 0 0 1
ARID4A 0 1 0 0 0 0 0 0 1
ATL1, CDKL1, DMAC2L, L2HGDH, MAP4K5, NIN, SAV1, SOS2 0 0 1 0 0 0 0 0 1
ATM 0 1 0 0 0 0 0 0 1
ATP6V1F, FLNC, KCP 1 0 0 0 0 0 0 0 1
AURKA 0 1 0 0 0 0 0 0 1
BAP1 0 1 0 0 0 0 0 0 1
BARD1 0 1 0 0 0 0 0 0 1
BCORL1 0 1 0 0 0 0 0 0 1
BRAF, LOC129999507 0 0 1 0 0 0 0 0 1
BRCA2 0 1 0 0 0 0 0 0 1
C2CD4A, C2CD4B, TLN2, TPM1, VPS13C 0 0 1 0 0 0 0 0 1
C2orf49, FHL2 0 0 1 0 0 0 0 0 1
CACNB2 0 0 0 0 1 0 0 0 1
CASC3, CDC6, CSF3, ERBB2, GRB7, GSDMA, GSDMB, IKZF3, LRRC3C, MED24, MIEN1, MSL1, NR1D1, ORMDL3, PGAP3, PNMT, PSMD3, RAPGEFL1, TCAP, THRA, WIPF2, ZPBP2 0 0 1 0 0 0 0 0 1
CASR 0 1 0 0 0 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 0 0 0 1
CD33, CLDND2, ETFB, IGLON5, LIM2, NKG7, SIGLECL1, VSIG10L 1 0 0 0 0 0 0 0 1
CDHR5, CEND1, DEAF1, DRD4, EPS8L2, GATD1, HRAS, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, PHRF1, PIDD1, PNPLA2, RASSF7, RPLP2, SCT, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 0 0 0 1
CDKN2C 0 1 0 0 0 0 0 0 1
CELSR3 0 0 1 0 0 0 0 0 1
CHD7 0 0 1 0 0 0 0 0 1
CLTC 1 0 0 0 0 0 0 0 1
COL1A1 0 0 1 0 0 0 0 0 1
COMT, TXNRD2 0 0 1 0 0 0 0 0 1
CORIN 1 0 0 0 0 0 0 0 1
CRBN, TRNT1 0 1 0 0 0 0 0 0 1
CTSD, H19, IFITM10, IGF2, INS, INS-IGF2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MRPL23, SYT8, TH, TNNI2, TNNT3 1 0 0 0 0 0 0 0 1
CYLD 0 1 0 0 0 0 0 0 1
DAP3, GON4L, MSTO1, RIT1, SYT11, YY1AP1 0 0 1 0 0 0 0 0 1
DIS3 0 1 0 0 0 0 0 0 1
DM1, DMPK, LOC107075317, LOC129929042 0 0 1 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 1
DMPK, LOC107075317 0 0 1 0 0 0 0 0 1
DNAAF3, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 0 0 0 1
DNMT3A 0 1 0 0 0 0 0 0 1
EIF1AX 0 1 0 0 0 0 0 0 1
EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1, SMCHD1, TGIF1 0 0 1 0 0 0 0 0 1
FAM98B, LINC02694, LOC105370781, LOC126862106, LOC126862107, LOC126862108, LOC129390685, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC130056794, LOC130056795, LOC130056796, LOC130056797, LOC130056798, LOC130056799, LOC130056800, LOC130056801, LOC130056802, LOC130056803, LOC130056804, LOC130056805, LOC130056806, RASGRP1, SPRED1 1 0 0 0 0 0 0 0 1
FANCA, SPIRE2 0 0 1 0 0 0 0 0 1
FHOD3, LOC130062385 0 0 1 0 0 0 0 0 1
FLT3 0 1 0 0 0 0 0 0 1
FXN, LOC130001862 0 0 1 0 0 0 0 0 1
GATAD1 0 0 0 1 0 0 0 0 1
GJA5, LOC122128420 0 0 1 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 0 0 1
GPD1L 0 0 0 1 0 0 0 0 1
GPR149 0 0 1 0 0 0 0 0 1
H1-4 0 1 0 0 0 0 0 0 1
H19-ICR 1 0 0 0 0 0 0 0 1
H2AC16 0 1 0 0 0 0 0 0 1
H2AC17 0 1 0 0 0 0 0 0 1
H3C1 0 1 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 0 0 1 0 0 0 0 0 1
HCN4, LOC105370890, LOC126862173 0 0 0 1 0 0 0 0 1
HDAC4 0 1 0 0 0 0 0 0 1
IGF2, INS-IGF2 0 1 0 0 0 0 0 0 1
IGF2R 0 0 1 0 0 0 0 0 1
IL7R 0 1 0 0 0 0 0 0 1
ILK 0 0 1 0 0 0 0 0 1
JPH2, LOC108353820, LOC121853007 0 0 1 0 0 0 0 0 1
KCNE1 0 0 1 0 0 0 0 0 1
KCNJ2 0 0 1 0 0 0 0 0 1
KCNQ1OT1 1 0 0 0 0 0 0 0 1
KDM5C, LOC130068308 0 1 0 0 0 0 0 0 1
KIF5B 0 1 0 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 0 1
L2HGDH, SOS2 0 0 1 0 0 0 0 0 1
LAMA2 0 0 1 0 0 0 0 0 1
LATS1 0 1 0 0 0 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 0 0 1
LMNA, LOC126805877 0 0 1 0 0 0 0 0 1
LMNA, LOC129931597 0 0 0 1 0 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 0 0 0 1
LOC108004545, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021843, LOC126862629, LOC126862630, LOC126862631, LOC130061541, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 0 0 1
LOC108004545, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 0 0 1
LOC108178989, SRY 0 0 1 0 0 0 0 0 1
LOC110121269, SCN5A 0 0 0 1 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 0 0 1
LOC125371495, NDUFA13 1 0 0 0 0 0 0 0 1
LOC126861897, MHRT, MIR208B, MYH7 0 1 0 0 0 0 0 0 1
LOC129389024, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, RAF1, TMEM40 0 0 1 0 0 0 0 0 1
LOC129390685, SPRED1 1 0 0 0 0 0 0 0 1
LOC129930795, NEXN 0 0 1 0 0 0 0 0 1
LOC129935184, TTN 0 0 0 1 0 0 0 0 1
LOC129935185, TTN 0 0 0 1 0 0 0 0 1
LOC130004109, VCL 0 0 1 0 0 0 0 0 1
LOC130008520, TMPO 0 0 1 0 0 0 0 0 1
LOC130008523, SLC25A3 1 0 0 0 0 0 0 0 1
LOC130057222, TPM1 0 0 1 0 0 0 0 0 1
LOC130057340, MAP2K1 0 0 0 1 0 0 0 0 1
LOC130063979, PIK3R2 0 1 0 0 0 0 0 0 1
MADD 1 0 0 0 0 0 0 0 1
MASP1 0 0 1 0 0 0 0 0 1
MGA 0 1 0 0 0 0 0 0 1
MST1R 0 1 0 0 0 0 0 0 1
MT-TG 1 0 0 0 0 0 0 0 1
MT-TL1 0 0 0 0 0 0 0 1 1
MYBPHL 0 0 1 0 0 0 0 0 1
MYD88 0 1 0 0 0 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 0 0 1
NCOR2 0 1 0 0 0 0 0 0 1
NDUFA13 1 0 0 0 0 0 0 0 1
NF1 0 1 0 0 0 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 0 0 0 1
NKX2-5 0 0 1 0 0 0 0 0 1
NSD2 1 0 0 0 0 0 0 0 1
P2RY8 0 1 0 0 0 0 0 0 1
PIK3R2 0 1 0 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 0 1
PRDM16 0 0 1 0 0 0 0 0 1
RASA2 0 1 0 0 0 0 0 0 1
RECQL4 0 1 0 0 0 0 0 0 1
RNF123 0 0 1 0 0 0 0 0 1
RXRA 0 1 0 0 0 0 0 0 1
SAMHD1 0 1 0 0 0 0 0 0 1
SGCA 0 0 0 1 0 0 0 0 1
SGCB 0 0 0 1 0 0 0 0 1
SGCD 0 0 0 1 0 0 0 0 1
SGK1 0 1 0 0 0 0 0 0 1
SH2B3 0 1 0 0 0 0 0 0 1
SLC25A4 1 0 0 0 0 0 0 0 1
SOX9 1 0 0 0 0 0 0 0 1
TAFAZZIN 0 0 1 0 0 0 0 0 1
TCF3 0 1 0 0 0 0 0 0 1
TET3 0 1 0 0 0 0 0 0 1
TRAF5 0 1 0 0 0 0 0 0 1
UQCRC1 0 1 0 0 0 0 0 0 1
YAP1 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 300
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2048 720 13083 11592 1281 0 0 0 28723
Fulgent Genetics, Fulgent Genetics 166 133 2441 451 71 0 0 0 3262
Illumina Laboratory Services, Illumina 23 9 1436 395 278 0 0 0 2078
All of Us Research Program, National Institutes of Health 61 47 1132 652 50 0 0 0 1942
Genome-Nilou Lab 37 39 323 216 195 0 0 0 810
Baylor Genetics 243 336 170 1 0 0 0 0 750
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 389 262 41 0 0 0 0 0 692
Genome Diagnostics Laboratory, The Hospital for Sick Children 80 36 197 81 145 0 0 0 539
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 180 56 175 13 1 0 0 0 425
OMIM 405 0 4 0 0 2 0 0 411
Blueprint Genetics 51 65 224 26 3 0 0 0 369
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 113 22 200 2 15 0 0 0 352
Natera, Inc. 52 20 185 36 21 0 0 0 314
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 54 17 67 43 97 0 0 0 278
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 167 73 8 2 8 0 0 0 258
Counsyl 2 120 83 46 1 0 0 0 252
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 60 35 117 14 9 0 0 0 235
3billion 123 70 34 6 0 0 0 0 233
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 38 118 46 9 14 0 0 0 225
Service de Génétique Moléculaire, Hôpital Robert Debré 15 51 96 53 0 0 0 0 215
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 32 40 126 1 1 0 0 0 200
New York Genome Center 19 15 142 0 0 0 0 0 176
Juno Genomics, Hangzhou Juno Genomics, Inc 54 87 26 0 0 0 0 0 167
Center for Human Genetics, University of Leuven 41 28 85 1 0 0 0 0 155
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 22 0 15 32 84 0 0 0 153
Database of Curated Mutations (DoCM) 0 147 0 0 0 0 0 0 147
Institute of Molecular, Cell and Systems Biology, University of Glasgow 146 0 0 0 0 0 0 0 146
Revvity Omics, Revvity 39 24 82 0 0 0 0 0 145
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 7 4 29 57 43 0 0 0 140
Mendelics 24 24 48 12 31 0 0 0 139
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 16 2 17 51 36 0 0 0 122
Genetics and Genomics Program, Sidra Medicine 4 6 60 31 0 0 0 0 101
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 90 3 4 0 0 0 99
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 30 7 58 1 0 0 0 0 95
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 15 10 63 1 6 0 0 0 95
Genome Diagnostics Laboratory, University Medical Center Utrecht 14 1 10 24 44 0 0 0 93
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 30 20 39 4 0 0 0 0 92
Institute of Human Genetics, University of Leipzig Medical Center 29 24 31 2 0 0 0 0 86
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 77 6 0 0 0 0 0 83
Centre for Mendelian Genomics, University Medical Centre Ljubljana 24 7 50 0 2 0 0 0 83
Neuberg Centre For Genomic Medicine, NCGM 23 14 46 0 0 0 0 0 83
Cohesion Phenomics 0 0 0 14 68 0 0 0 82
Institute of Human Genetics, University of Wuerzburg 4 6 16 7 7 0 0 40 80
CSER _CC_NCGL, University of Washington 3 11 59 5 0 0 0 0 78
ClinGen Cardiomyopathy Variant Curation Expert Panel 25 18 30 2 0 0 0 0 75
ClinGen RASopathy Variant Curation Expert Panel 47 10 4 1 2 0 0 0 64
Neuromuscular Research, Maastricht University Medical Centre 48 0 0 0 14 0 0 0 61
Genetics and Molecular Pathology, SA Pathology 25 11 22 0 0 0 0 0 58
MGZ Medical Genetics Center 21 19 17 0 0 0 0 0 57
Myriad Genetics, Inc. 4 40 10 0 0 0 0 0 54
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 52 0 0 0 0 0 0 53
GeneReviews 1 0 0 0 4 0 0 45 50
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 35 9 5 0 0 0 0 0 49
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 20 21 2 0 0 0 0 0 42
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 29 12 0 0 0 0 0 0 41
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 14 4 18 2 0 0 0 0 38
Sema4, Sema4 0 0 12 15 10 0 0 0 37
Center of Genomic medicine, Geneva, University Hospital of Geneva 26 5 6 0 0 0 0 0 37
Molecular Genetics, Centre for Human Genetics 27 4 6 0 0 0 0 0 37
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 2 2 15 6 10 0 0 0 35
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 21 11 3 1 0 0 0 0 35
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 25 6 3 0 0 0 0 0 34
Phosphorus, Inc. 8 5 16 2 3 0 0 0 34
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 13 8 9 0 0 0 0 0 30
Center for Human Genetics, Inc, Center for Human Genetics, Inc 19 4 4 1 1 0 0 0 29
Clinical Genomics Laboratory, Washington University in St. Louis 6 3 20 0 0 0 0 0 29
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 29 0 0 0 0 0 0 0 29
Molecular Genetics, Royal Melbourne Hospital 5 6 14 2 2 0 0 0 29
Institute of Immunology and Genetics Kaiserslautern 12 7 10 0 0 0 0 0 29
Clinical Genomics Laboratory, Stanford Medicine 3 3 22 0 0 0 0 0 28
GenomeConnect, ClinGen 0 0 0 0 0 0 0 25 25
Cytogenetics- Mohapatra Lab, Banaras Hindu University 4 2 12 3 3 0 0 0 24
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 21 3 0 0 0 0 0 0 24
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 17 6 0 0 0 0 0 0 23
Genomic Medicine Lab, University of California San Francisco 15 3 4 0 0 0 0 0 22
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 14 7 0 0 0 0 0 0 21
Centogene AG - the Rare Disease Company 9 6 6 0 0 0 0 0 21
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 4 12 0 0 0 0 0 21
KardioGenetik, Herz- und Diabeteszentrum NRW 3 8 10 0 0 0 0 0 21
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 4 7 9 0 0 0 0 0 20
Clinical Genetics Laboratory, Region Ostergotland 12 8 0 0 0 0 0 0 20
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 7 8 5 0 0 0 0 0 20
DASA 18 2 0 0 0 0 0 0 20
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 2 11 5 1 0 0 0 0 19
MVZ Medizinische Genetik Mainz 0 3 16 0 0 0 0 0 19
Division of Human Genetics, Children's Hospital of Philadelphia 1 4 13 0 0 0 0 0 18
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 6 9 0 0 0 0 0 18
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 6 5 0 3 0 0 0 18
GenomeConnect - CFC International 0 0 0 0 0 0 0 18 18
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 13 0 0 0 0 2 17
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 3 12 0 0 0 0 0 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 5 2 0 0 0 0 0 17
deCODE genetics, Amgen 2 13 0 0 0 0 0 0 15
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 15 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 3 7 2 0 0 0 0 14
UCLA Clinical Genomics Center, UCLA 5 9 0 0 0 0 0 0 14
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 13 0 0 0 14
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 6 7 0 0 0 0 0 14
Klaassen Lab, Charite University Medicine Berlin 3 0 11 0 0 0 0 0 14
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 6 8 0 0 0 0 0 14
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 0 13 13
Center for Medical Genetics Ghent, University of Ghent 6 7 0 0 0 0 0 0 13
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 8 5 0 0 0 0 0 0 13
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 5 3 5 0 0 0 0 0 13
Genomics England Pilot Project, Genomics England 3 10 0 0 0 0 0 0 13
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 6 0 0 0 0 0 12
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 5 2 5 0 0 0 0 0 12
Institute of Human Genetics, University of Goettingen 0 2 8 1 0 0 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 5 0 0 0 0 0 0 11
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 8 3 0 0 0 0 0 0 11
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 4 1 6 0 0 0 0 0 11
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 5 2 4 0 0 0 0 0 11
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 3 7 0 0 0 11
Lildballe Lab, Aarhus University Hospital 3 4 4 0 0 0 0 0 11
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 10 0 0 0 0 0 0 0 10
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 4 2 3 1 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 6 2 1 0 0 0 0 0 9
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 8 0 0 1 0 0 0 0 9
Undiagnosed Diseases Network, NIH 5 2 2 0 0 0 0 0 9
Department of Human Genetics, University Hospital Magdeburg 6 2 1 0 0 0 0 0 9
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 9 0 0 0 0 0 0 0 9
UMR_S938_Pr. Le Bouc INSERM 0 0 0 0 0 0 0 8 8
Centre for Human Genetics 2 3 3 0 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 1 2 5 0 0 0 0 0 8
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 4 2 1 0 0 0 0 0 7
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 5 2 0 0 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 7 0 0 0 0 0 0 0 7
Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 3 4 0 0 0 0 0 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 4 0 3 0 0 0 0 0 7
Lifecell International Pvt. Ltd 5 2 0 0 0 0 0 0 7
Loeys Lab, Universiteit Antwerpen 2 0 5 0 0 0 0 0 7
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 7 0 0 0 0 0 0 0 7
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 6 1 0 0 0 0 0 0 7
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 6 0 0 0 0 0 0 0 6
Institute of Human Genetics, Medical University Innsbruck 2 1 3 0 0 0 0 0 6
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 3 2 1 0 0 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 4 2 0 0 0 0 0 0 6
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 6 0 0 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 1 0 0 0 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 3 0 3 0 0 0 0 0 6
Institute of Human Genetics, Heidelberg University 3 3 0 0 0 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 1 2 0 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 1 0 0 0 0 0 0 5
Leiden Muscular Dystrophy (MYL2) 0 0 0 0 0 0 0 5 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 1 0 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 1 1 3 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 3 0 0 0 0 0 0 5
Neuromuscular and Neuropediatric Research Group, Germans Trias i Pujol Research Institute 4 1 0 0 0 0 0 0 5
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 3 0 0 0 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 3 2 0 0 0 0 0 0 5
Molecular Genetics Lab, CHRU Brest 3 2 0 0 0 0 0 0 5
Suma Genomics 3 1 1 0 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 5 5
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 2 3 0 0 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 1 0 0 0 0 0 0 4
Institute of Human Genetics, Cologne University 0 0 3 1 0 0 0 0 4
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 3 0 0 0 0 0 4
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 0 0 0 0 0 0 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 2 0 0 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 0 4 0 0 0 0 0 0 4
Genetic Medico-Diagnostic Laboratory Genica 2 0 2 0 0 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 2 0 0 0 0 0 4
Breda Genetics srl 1 0 3 0 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 2 0 0 0 0 0 0 4
Cardiology unit, Meyer University Hospital 1 3 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 3 0 1 0 0 0 0 0 4
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 3 0 0 0 0 0 0 4
Pars Genome Lab 0 0 1 1 2 0 0 0 4
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 3 0 0 0 0 0 0 4
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 3 0 0 0 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 1 0 3 0 0 0 0 0 4
Provincial Medical Genetics Program of British Columbia, University of British Columbia 4 0 0 0 0 0 0 0 4
Leiden Muscular Dystrophy (MYL3) 0 0 0 0 0 0 0 3 3
Leiden Muscular Dystrophy (TPM1) 0 0 0 0 0 0 0 3 3
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 0 1 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 0 3
Donald Williams Parsons Laboratory, Baylor College of Medicine 2 1 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 0 0 3
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 2 1 0 0 0 0 0 0 3
Genetics and Molecular Pathology Laboratory, Hudson Institute of Medical Research 0 0 3 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 0 0 0 0 0 0 3
Division of Paediatric Endocrinology and Diabetes, University of Luebeck 2 1 0 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 1 0 0 0 0 0 3
Molecular Cardiogenetic Lab, Hospices Civils de Lyon 3 0 0 0 0 0 0 0 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 0 0 3
Laan Lab, Human Genetics Research Group, University of Tartu 1 2 0 0 0 0 0 0 3
Department of Neurology, Second Xiangya Hospital of Central South University 1 2 0 0 0 0 0 0 3
Genotypic Technology Pvt Ltd 0 0 3 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 2 1 0 0 0 0 0 0 3
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 2 0 1 0 0 0 0 0 3
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital 2 1 0 0 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 1 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 0 0 2
Health in Code S.L. 0 2 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 2 2
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 1 1 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 0 2
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 2 0 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 0 0 2
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 2 0 0 0 0 0 2
Medical Genetics Section, University of Rome Tor Vergata 2 0 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 0 0 2
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 2 0 0 0 0 0 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 2 0 0 0 0 0 0 0 2
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 2 0 0 0 0 0 0 0 2
Division of Medical Genetics, University of Washington 2 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 0 0 0 2
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 2 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 0 0 0 0 0 0 2
Human Developmental Genetics, Institut Pasteur 2 0 0 0 0 0 0 0 2
Genomics, Clalit Research Institute, Clalit Health Care 1 1 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 1 0 0 0 0 0 0 2
Eurofins-Biomnis 2 0 0 0 0 0 0 0 2
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 2 0 0 0 0 0 0 0 2
Arcensus 0 2 0 0 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 1 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 1 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 0 0 2
Biotechnology, Institute of Science, Nirma University 1 1 0 0 0 0 0 0 2
King Laboratory, University of Washington 0 1 0 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Genetic Testing Lab, University of Kentucky College of Medicine 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 1 0 0 0 0 0 0 0 1
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 1 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 1 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 0 0 1
Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine 1 0 0 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 0 1
Prenatal Diagnosis Centre, Shenzhen Maternity and Child Healthcare Hospital 0 0 1 0 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, DMCH Ludhiana, Dayanand Medical College & Hospital (DMCH) 0 0 1 0 0 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 0 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 0 0 1
NxGen MDx 0 0 1 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 1 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 0 0 1
Genetics Laboratory, Life Sciences Research Department, Aswan Heart Research Centre 1 0 0 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 0 0 1
Center of Genetics and Reproductive Medicine "Genetico" 0 1 0 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 1 0 0 0 0 0 1
University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre 0 1 0 0 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 0 0 0 0 0 1
Department of Cardiology, Liyang City Hospital of Traditional Chinese Medicine 0 1 0 0 0 0 0 0 1
Department of Pediatrics, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 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 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Graduate School of Medicine, Nagasaki University 1 0 0 0 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 0 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 0 1 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 0 0 0 1
Laboratory of Functional Genomics of Cardiovascular Diseases, Federal State Budgetary Institution National Medical Research Centre of Cardiology Named after Academician E.i.chazov. of the Ministry of Health of the Russian Federation 1 0 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 1 0 0 0 0 0 0 0 1
Ingles Laboratory, Garvan Institute Of Medical Research 0 0 0 0 1 0 0 0 1
Biotechnology Department, Cairo University 0 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 0 1 0 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Nagoya University Graduate School of Medicine 1 0 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 0 0 1

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