ClinVar Miner

Variants studied for cardiomyopathy

Included ClinVar conditions (389):
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 risk factor other not provided total
3730 2521 14888 6646 3181 3 5 193 28509

Gene and significance breakdown #

Total genes and gene combinations: 326
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
TTN 59 501 3980 1608 660 0 0 6 6234
DMD 558 50 344 165 140 0 0 3 1205
ALMS1 62 119 592 213 67 0 0 0 1043
MYBPC3 305 147 390 179 55 0 0 4 918
MYH7 117 181 444 176 42 0 0 0 839
DSP 64 66 440 218 72 0 0 0 762
FLNC 36 10 424 169 75 0 0 0 712
SYNE1 7 3 366 271 142 0 0 0 685
SYNE2 1 1 313 235 140 0 0 0 599
GAA 74 135 254 94 44 0 3 0 547
RYR2 4 3 327 176 90 0 0 0 509
AGL 59 97 214 55 36 0 0 1 421
PKP2 54 56 212 114 39 0 0 0 414
MYH6 7 1 251 141 63 0 0 0 390
ABCC6 352 4 3 1 19 0 0 2 375
DSG2 24 19 209 98 42 1 0 0 333
ACADVL 38 82 133 61 17 0 0 0 292
ACTN2 7 1 198 94 31 0 0 0 286
RBM20 8 10 179 84 26 0 0 0 281
SLC22A5 53 60 103 25 16 0 0 104 269
DSC2 11 12 169 84 23 0 0 0 265
CDKN1C 24 1 106 98 20 0 0 0 247
MYPN 6 4 150 56 41 0 0 0 231
SOS1 22 14 124 53 36 0 0 2 227
MYOM1 0 1 110 66 51 0 0 0 226
GLA, RPL36A-HNRNPH2 106 47 48 22 10 0 1 3 212
PTPN11 80 28 73 24 34 0 0 6 212
PRKAG2 13 7 130 62 16 0 0 0 208
LAMA4 2 0 111 64 48 0 0 0 207
TNNT2 29 36 112 46 14 0 0 0 205
JUP 7 1 127 60 20 0 0 0 198
LMNA 57 55 55 29 16 0 0 0 195
DES 32 18 99 35 21 0 0 0 190
VCL 3 11 107 51 28 0 0 1 189
PRDM16 5 0 81 63 40 0 0 0 188
ACTC1, LOC101928174 8 8 119 42 6 0 0 0 171
TMEM43 4 1 118 46 20 0 0 0 169
LAMP2 35 16 71 41 12 0 0 0 166
BAG3 19 15 89 26 19 0 0 0 164
SPRED1 30 5 74 49 12 0 0 0 162
BRAF 37 54 40 32 25 0 0 1 157
ABCC9 4 4 83 43 29 0 0 1 155
DM1, DMPK, LOC107075317, LOC109461477 147 0 0 0 1 0 0 0 148
TNNI3 27 30 70 31 6 1 0 0 148
NSD1 42 8 50 21 25 0 0 0 146
CBL 7 0 82 35 22 0 0 0 144
TPM1 12 25 79 33 7 0 0 5 142
RAF1 25 24 66 41 14 0 0 2 140
NEXN 5 2 99 28 13 0 0 0 132
EPG5 28 13 50 16 31 0 0 0 131
KRAS 20 15 53 43 4 0 0 2 130
NEBL 0 0 70 37 23 0 0 0 129
MHRT, MYH7 7 12 80 31 11 0 0 0 125
CTNNA3 2 0 82 9 26 0 0 0 118
SGCA 17 38 53 14 3 0 0 0 117
HRAS, LRRC56 18 19 42 35 12 0 0 0 113
IDUA 36 39 37 3 0 0 0 0 112
DTNA 2 0 51 43 21 0 0 0 109
CSRP3 7 10 78 20 6 0 0 1 107
JPH2 3 1 61 30 21 0 0 0 105
MYLK2 0 1 69 24 21 0 0 0 103
SGCD 10 7 55 22 9 0 0 0 100
PDGFRA 0 0 45 39 14 0 0 0 98
TTR 45 7 36 9 9 0 0 1 96
MYL2 5 15 49 21 12 0 0 2 91
MAP2K2 6 5 27 29 28 0 0 1 87
LOC101927055, TTN 0 3 47 28 12 0 0 0 79
TXNRD2 0 0 41 22 16 0 0 0 78
NRAS 8 14 40 17 2 0 0 1 77
MYL3 5 6 46 22 6 0 0 3 76
SOS2 2 1 33 23 16 0 0 1 76
EMD 28 3 31 10 6 0 0 0 73
ELAC2 7 2 37 15 13 0 0 0 72
GBE1 25 5 32 8 8 0 0 2 71
SHOC2 2 1 32 30 14 0 0 1 71
SGCG 11 20 34 6 6 0 0 0 70
FHL1 13 2 33 11 10 0 0 0 69
LDB3 5 0 43 14 14 0 0 0 69
SGCB 16 19 34 3 2 0 0 0 69
SUN1 0 0 37 10 20 0 0 0 67
SCN5A 15 3 40 3 4 0 0 7 66
TAZ 20 11 19 17 4 0 0 0 66
MYOZ2 2 0 34 29 8 0 0 0 65
TP53 0 64 0 0 0 0 0 0 64
DOLK 6 0 35 15 7 0 0 0 63
GAREM2, HADHA 7 25 29 4 3 0 0 0 62
MANBA 12 1 28 10 11 0 0 1 61
TNNC1 7 2 45 11 3 0 0 0 61
HADHA 13 23 23 3 4 0 0 0 59
TCAP 3 3 42 15 3 0 0 0 59
ETFDH 13 10 29 4 4 0 0 0 57
HADHB 10 2 32 6 10 0 0 0 56
CALR3 1 0 29 13 18 0 0 0 55
EYA4 1 0 32 16 5 0 0 0 54
IDUA, SLC26A1 7 6 9 31 0 0 1 0 53
PDLIM3 0 0 28 10 14 0 0 1 52
GBA, LOC106627981 35 16 1 0 0 0 0 0 49
ACAD8 5 2 35 7 4 0 0 1 48
PGM1 11 0 21 13 9 0 0 1 48
COQ4 11 4 22 7 5 0 0 0 47
SUN2 0 0 14 19 14 0 0 0 47
FUCA1 16 1 20 7 5 0 0 0 46
MAP2K1 10 7 13 13 9 0 0 0 45
MTO1 6 4 19 11 6 0 0 0 45
GYS1 4 1 29 9 1 0 0 1 44
IDS, LOC106050102 32 6 1 1 4 0 0 0 42
LOC114827851, MYH6 0 0 27 12 8 0 0 0 42
ACAD9 11 1 23 4 4 0 0 0 41
CEP85L, PLN 3 1 33 5 0 0 0 0 41
SLC25A20 14 0 24 2 1 0 0 0 41
CAV3 1 0 27 13 3 0 0 0 39
IDS 28 5 6 0 0 0 0 0 39
TGFB3 2 0 30 6 0 0 0 0 38
LIMS2 1 0 18 9 9 0 0 0 37
AGK 11 1 21 1 2 0 0 0 36
FHL2 0 0 20 9 8 0 0 0 36
ZFPM2 3 0 12 4 18 0 0 0 36
CRYAB 3 2 22 8 2 0 0 0 33
RBCK1 10 0 16 4 2 0 0 0 32
ETFA 6 0 19 4 2 0 0 0 30
MAP3K1 6 3 5 1 15 0 0 0 30
RIT1 19 5 6 2 1 0 0 1 29
RRAS 0 0 16 10 3 0 0 0 29
SRY 26 1 1 0 0 0 0 0 28
LOC114827850, MYL2 3 4 14 6 6 0 0 3 26
AGK, DENND11 1 2 18 4 0 0 0 0 25
ESR1, SYNE1 0 0 11 6 8 0 0 0 25
NR5A1 18 5 2 0 2 0 0 0 25
ACADVL, DLG4 0 3 18 2 2 0 0 0 24
ANKRD1 0 0 11 5 10 0 0 0 24
ACADL 0 0 19 2 2 0 0 0 23
ILK, TAF10 0 0 16 3 4 0 0 0 23
DNAJC19 2 0 18 0 3 0 0 0 22
FKTN 10 1 5 2 4 0 0 0 22
LZTR1 12 3 8 0 0 0 0 0 22
SLC25A3 1 0 17 4 0 0 0 0 22
GATAD1 1 0 11 6 4 0 0 0 21
SDHA 2 0 18 0 0 0 0 1 21
TMEM43, XPC 0 0 0 21 0 0 0 0 21
DSC2, DSCAS 2 0 16 2 1 0 0 0 20
MAP2K1, SNAPC5 0 0 16 5 2 0 0 0 20
DMD, MIR3915, MIR548F5 15 1 2 0 0 0 0 0 18
DNAAF3, TNNI3 0 0 0 17 3 0 0 0 18
EYA4, TARID 1 0 9 5 3 0 0 0 18
MIB1 2 2 5 7 5 0 0 0 18
ACTA1 0 0 10 7 0 0 0 0 17
LDB3, LOC110121486 2 0 15 2 1 0 0 0 17
ACAD9, KIAA1257 5 1 6 3 1 0 0 0 16
FTL, GYS1 0 0 9 5 2 0 0 0 16
ETFB 3 0 8 2 3 0 0 0 15
KCNQ1 5 1 9 0 0 0 0 0 15
TMPO 0 0 9 3 6 0 0 0 15
GLA 14 0 0 0 0 0 0 0 14
MT-ND1 14 0 1 0 0 0 0 0 14
CCDC40, GAA 0 0 0 6 7 0 0 0 13
GJA5 0 0 11 0 1 0 0 0 12
MIPEP 7 2 8 0 0 0 0 0 12
MIR3936HG, SLC22A5 0 1 3 4 3 0 0 6 12
MT-ND5 11 0 2 0 0 0 0 0 12
LAMA4, LOC101927640 0 0 6 4 1 0 0 0 11
MT-ND6 11 0 0 0 0 0 0 0 11
FXN 8 1 0 0 1 0 0 0 10
GTPBP3 7 3 0 0 0 0 0 0 10
SACS, SGCG 1 0 0 7 2 0 0 0 10
CASQ2 0 0 4 0 5 0 0 0 9
DHH 5 2 2 0 0 0 0 0 9
DPM3 2 1 4 1 1 0 0 1 9
FLAD1 8 0 0 1 0 0 0 0 9
MYO6 7 0 2 0 0 0 0 0 9
DMPK 6 0 1 0 1 0 0 0 8
MAP2K1, TIPIN 0 0 4 4 0 0 0 0 8
XK 8 0 0 0 0 0 0 0 8
ALPK3 4 3 0 0 0 0 0 0 7
CAV3, SSUH2 0 0 4 3 0 0 0 0 7
DNASE1L1, TAZ 0 1 2 3 1 0 0 0 7
MT-ND4 4 0 3 0 0 0 0 1 7
NR0B1 6 0 1 0 0 0 0 0 7
CTF1 0 0 4 0 2 0 0 0 6
H19, H19-ICR, MRPL23 0 0 0 0 0 0 0 6 6
PLEC 0 0 2 4 0 0 0 0 6
​intergenic 4 0 0 0 1 0 0 0 5
ATAD3A 3 1 1 0 0 0 0 0 5
B2M 0 5 0 0 0 0 0 0 5
COMT, TXNRD2 0 0 5 0 0 0 0 0 5
DMD, MIR548F5 4 1 0 0 0 0 0 0 5
HCN4 0 0 4 0 1 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 5
MT-CYB 4 0 2 0 0 0 0 0 5
MT-TL1 4 0 1 0 0 0 0 0 5
PPP1CB 5 0 0 0 0 0 0 0 5
SLC25A4 4 0 1 0 0 0 0 0 5
AKR1C2 4 0 0 0 0 0 0 0 4
ANK2 0 0 4 0 0 0 0 0 4
CDK4 0 4 0 0 0 0 0 0 4
DMD, MIR3915 3 1 0 0 0 0 0 0 4
GBA 3 1 0 0 0 0 0 0 4
KCNH2 0 0 3 1 0 0 0 0 4
LOC110121269, SCN5A 0 0 4 0 0 0 0 0 4
MT-TI 4 0 0 0 0 0 0 0 4
MT-TK 4 0 0 0 0 0 0 0 4
PLN 4 0 0 0 0 0 0 0 4
TRIM63 0 0 3 1 0 0 0 0 4
CACNA1C 0 1 2 0 0 0 0 0 3
CBX2 2 0 1 0 0 0 0 2 3
COQ9 2 0 1 0 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
HADHA, HADHB 0 0 0 2 1 0 0 0 3
IDH2 0 3 0 0 0 0 0 0 3
ILK 0 0 1 1 1 0 0 0 3
LIG4 1 0 2 0 0 0 0 0 3
LOC100128979, TPM1 0 0 1 2 0 0 0 0 3
MT-ND2 2 0 1 0 0 0 0 0 3
PIK3CA 0 3 0 0 0 0 0 0 3
PSEN1 1 2 0 0 0 0 0 0 3
PSEN2 1 0 2 0 0 0 0 0 3
SOX9 3 0 0 0 0 0 0 0 3
TNNI3, TNNT1 0 0 0 3 0 0 0 0 3
UQCRFS1 3 0 0 0 0 0 0 0 3
A2ML1 0 0 2 0 0 0 0 0 2
AKAP9 0 0 2 0 0 0 0 0 2
CASQ2, VANGL1 0 0 0 0 2 0 0 0 2
DES, DES-LCR 0 0 1 1 0 0 0 0 2
DM1, DMPK, LOC107075317 0 0 2 0 0 0 0 0 2
GPD1L 0 0 1 1 0 0 0 0 2
GTPBP1, SUN2 0 0 2 0 0 0 0 0 2
H19 2 0 0 0 0 0 0 0 2
H19-ICR, MRPL23 0 0 0 0 0 0 0 2 2
IFT43, TGFB3 0 0 0 2 0 0 0 0 2
KCNE1 0 0 2 0 0 0 0 0 2
KCNE2 0 0 2 0 0 0 0 0 2
LOC114827827, NPPA 1 0 1 0 0 0 0 0 2
LOC114827851, MHRT, MIR208B, MYH6, MYH7 0 0 2 0 0 0 0 0 2
MRPL44 1 1 0 0 0 0 0 1 2
MT-ATP6 1 0 0 0 0 0 0 1 2
MT-CO3 2 0 0 0 0 0 0 0 2
MT-ND3 2 0 0 0 0 0 0 0 2
MT-TF 2 0 0 0 0 0 0 0 2
MT-TY 2 0 0 0 0 0 0 0 2
NDUFAF5 0 2 0 0 0 0 0 0 2
PMPCA 2 0 0 0 0 0 0 0 2
PTPN11, RPL6 0 0 1 1 0 0 0 0 2
TRPM4 0 0 2 0 0 0 0 0 2
ABCB6, ANKZF1, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CNOT9, CNPPD1, CRYBA2, CTDSP1, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, IHH, MIR26B, MIR375, NHEJ1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, STK16, STK36, TMBIM1, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 1 0 0 0 0 0 0 0 1
ABCC1, ABCC6, FOPNL, LOC112340382, LOC113939949, MYH11, NDE1 1 0 0 0 0 0 0 0 1
ABCC1, ABCC6, FOPNL, LOC112340382, MYH11 1 0 0 0 0 0 0 0 1
ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FNDC10, GABRD, GNB1, GPR153, HES2, HES3, HES4, HES5, ICMT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF207, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73, ZBTB48 1 0 0 0 0 0 0 0 1
ACAP3, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KCNAB2, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NPHP4, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, OR4F16, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 0 0 1
ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, OR4F16, PANK4, PEX10, PLCH2, PLEKHN1, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1 1 0 0 0 0 0 0 0 1
ACP2, ARFGAP2, C11orf49, DDB2, LOC101928943, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 0 0 1
ACTC1 0 0 0 0 1 0 0 0 1
ACTN2, LOC110121264, LOC110121265, LOC110121266, MT1HL1, MTR, RYR2 0 0 1 0 0 0 0 0 1
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 0 0 1
AKR1C4 0 0 0 0 0 1 0 0 1
ANKRD37, C4orf47, CCDC110, CFAP97, LOC105377590, LRP2BP, PDLIM3, SLC25A4, SNX25, UFSP2 0 0 1 0 0 0 0 0 1
ANKRD37, C4orf47, CCDC110, CFAP97, LRP2BP, PDLIM3, SLC25A4, SNX25, UFSP2 0 0 1 0 0 0 0 0 1
AP3M1, VCL 0 0 1 0 0 0 0 0 1
APOA1 0 0 0 1 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 0 0 1
ARHGEF33, ATL2, CYP1B1, DHX57, GALM, GEMIN6, HNRNPLL, MORN2, SOS1, SOS1-IT1, SRSF7 0 0 1 0 0 0 0 0 1
C1QTNF9, C1QTNF9B, MIPEP, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 1 0 0 0 0 0 0 0 1
C9orf16, CERCAM, CIZ1, COQ4, DNM1, GLE1, GOLGA2, LCN2, LOC113839516, LOC113839517, LOC113839524, MIR199B, MIR219A2, MIR219B, MIR3154, ODF2, SLC27A4, SWI5, TRR-TCT3-1, TRUB2, URM1 0 0 1 0 0 0 0 0 1
CACNB2, NSUN6 0 0 1 0 0 0 0 0 1
CASR 0 1 0 0 0 0 0 0 1
CHRM2, LOC349160 0 0 1 0 0 0 0 0 1
COMT, GNB1L, LOC110120888, RTL10, TBX1, TXNRD2 0 0 1 0 0 0 0 0 1
DCX 1 0 0 0 0 0 0 0 1
DMPK, LOC107075317 0 0 1 0 0 0 0 0 1
DMRT1 0 1 0 0 0 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 1 0 1 0 0 0 1
DNM1L, FGD4, PKP2, YARS2 0 0 1 0 0 0 0 0 1
DPP6 0 0 1 0 0 0 0 0 1
EMD, FLNA 0 0 1 0 0 0 0 0 1
ESR1, FBXO5, LINC02840, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 1
FAM135A 0 0 0 1 0 0 0 0 1
FAM98B, LINC02694, RASGRP1, SPRED1 1 0 0 0 0 0 0 0 1
FKRP 0 0 1 0 0 0 0 0 1
FXN, LOC108510657 1 0 0 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 1
GCOM1, MYZAP 0 1 0 0 0 0 0 0 1
GPR17, LIMS2 0 0 1 0 0 0 0 0 1
GSK3A 0 0 1 0 0 0 0 0 1
H19, H19-ICR, ICR1, MRPL23 1 0 0 0 0 0 0 0 1
H19-ICR, ICR1 1 0 0 0 0 0 0 0 1
HAND2 1 0 0 0 0 0 0 0 1
JPH2, LOC108353820 0 0 1 0 0 0 0 0 1
KCNJ5 0 0 1 0 0 0 0 0 1
KCNQ1OT1 1 0 0 0 0 0 0 0 1
LOC102723692, XYLT1 0 0 1 0 0 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 0 0 0 1
LOC110120751, LOC110121223, LOC112577578, LOC112577579, MIR4251, PRDM16 0 0 1 0 0 0 0 0 1
LOC110121276, LOC110121277, LOC110121278, LOC110121279, PRKAG2 0 0 1 0 0 0 0 0 1
LOC111875823, RBM20 0 0 1 0 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
MADD, MYBPC3 1 0 0 0 0 0 0 0 1
MRAS 0 1 0 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TC, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY 0 1 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TC, MT-TD, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY 0 1 0 0 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 0 0 1
MT-RNR1 1 0 0 0 0 0 0 0 1
MT-TC 1 0 0 0 0 0 0 0 1
MT-TG 1 0 0 0 0 0 0 0 1
MT-TP 1 0 0 0 0 0 0 0 1
MT-TP, MT-TT 1 0 0 0 0 0 0 0 1
MT-TQ 1 0 0 0 0 0 0 0 1
MYD88 0 1 0 0 0 0 0 0 1
MYH6, MYH7 0 0 0 1 1 0 0 0 1
NCAPH2, SCO2 0 1 0 0 0 0 0 0 1
NDUFB11 0 1 0 0 0 0 0 0 1
NDUFS1 0 1 0 0 0 0 0 0 1
NDUFS2 1 0 0 0 0 0 0 0 1
NEDD4L 0 0 1 0 0 0 0 0 1
NKX2-5 1 0 0 0 0 0 0 0 1
PLEKHA3, TTN 0 1 0 0 0 0 0 0 1
RNF167 0 0 0 0 1 0 0 0 1
RYR1 0 0 1 0 0 0 0 0 1
SCN1B 1 0 0 0 0 0 0 0 1
SCN2B 0 0 1 0 0 0 0 0 1
SCN4B 0 0 1 0 0 0 0 0 1
SNTA1 0 0 1 0 0 0 0 0 1
TSFM 1 0 0 0 0 0 0 0 1
TUBA1A 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 166
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 1232 494 9255 4024 2437 0 4 0 17445
Illumina Clinical Services Laboratory,Illumina 19 14 3075 1641 250 0 0 0 4996
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 37 66 878 367 389 0 0 0 1737
Counsyl 92 626 693 254 7 0 1 0 1673
OMIM 1173 1 15 0 0 3 0 0 1191
Color 1 4 397 455 326 0 0 0 1183
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 450 495 2 0 0 0 0 1 948
Blueprint Genetics, 71 149 442 37 3 0 0 0 702
Fulgent Genetics 140 19 386 2 0 0 0 0 547
Integrated Genetics/Laboratory Corporation of America 205 84 24 31 81 0 0 0 425
PXE International 347 4 0 0 19 0 0 0 370
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 22 7 43 153 95 0 0 0 320
ClinGen RASopathy Variant Curation Expert Panel 57 17 12 48 123 0 0 0 257
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 213 39 1 1 0 0 0 0 254
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 27 1 29 62 128 0 0 0 247
Genome Diagnostics Laboratory,University Medical Center Utrecht 24 2 17 52 95 0 0 0 190
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 28 31 114 1 1 0 0 0 175
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 103 64 1 0 0 0 6 171
Center for Human Genetics,University of Leuven 43 29 91 2 0 0 0 0 165
GeneReviews 143 0 5 0 15 0 0 0 163
CSER_CC_NCGL; University of Washington Medical Center 3 20 113 23 1 0 0 0 160
Institute of Molecular, Cell and Systems Biology, University of Glasgow 148 0 0 0 0 0 0 0 148
Database of Curated Mutations (DoCM) 0 147 0 0 0 0 0 0 147
ARUP Institute,ARUP Laboratories 0 0 0 0 0 0 0 110 110
GeneDx 28 2 16 2 61 0 0 0 109
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 21 17 16 1 46 0 0 0 101
Phosphorus, Inc. 8 6 48 4 34 0 0 0 100
Baylor Genetics 66 5 15 1 12 0 0 0 99
Athena Diagnostics Inc 77 3 0 0 15 0 0 0 95
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 29 10 45 5 3 0 0 0 92
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 78 12 0 0 0 0 0 90
Genomic Research Center,Shahid Beheshti University of Medical Sciences 19 25 37 1 1 0 0 0 83
Biesecker Lab/Human Development Section,National Institutes of Health 2 2 32 22 24 0 0 0 82
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 8 19 34 4 0 0 0 0 65
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 26 8 25 3 0 0 0 0 62
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 0 7 6 25 0 0 0 62
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 31 9 9 0 0 0 50
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 0 0 0 46
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 14 6 24 1 0 0 0 0 45
Center of Genomic medicine, Geneva,University Hospital of Geneva 28 5 12 0 0 0 0 0 45
Institute of Human Genetics,Klinikum rechts der Isar 26 15 0 0 0 0 0 0 41
Centre for Mendelian Genomics,University Medical Centre Ljubljana 10 8 22 0 0 0 0 0 40
SIB Swiss Institute of Bioinformatics 6 17 13 1 2 0 0 0 39
Division of Human Genetics,Children's Hospital of Philadelphia 5 7 26 0 0 0 0 0 38
GenomeConnect, ClinGen 0 0 0 0 0 0 0 38 38
Genetic Services Laboratory, University of Chicago 23 8 2 0 0 0 0 0 33
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 31 0 0 0 1 0 0 0 32
Knight Diagnostic Laboratories,Oregon Health and Sciences University 8 2 21 0 0 0 0 0 31
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 14 14 0 0 0 0 0 30
Center for Human Genetics, Inc 19 4 4 1 1 0 0 0 29
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 8 2 17 2 0 0 0 0 29
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 16 12 0 0 0 0 0 0 28
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 1 18 0 0 0 0 0 21
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 3 14 4 0 0 0 0 0 21
UCLA Clinical Genomics Center, UCLA 6 14 0 0 0 0 0 0 20
Center for Medical Genetics Ghent,University of Ghent 8 10 2 0 0 0 0 0 20
HudsonAlpha Institute for Biotechnology 15 2 1 1 0 0 0 0 19
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 11 0 4 4 0 0 0 0 19
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 2 13 1 1 0 0 0 18
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 5 7 6 0 0 0 0 0 18
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 13 0 0 0 0 2 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 0 7 0 0 0 0 0 17
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 4 6 6 0 0 0 0 0 16
Service de Génétique Moléculaire,Hôpital Robert Debré 11 3 0 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
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 2 6 4 0 0 0 0 0 12
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 2 6 3 0 0 0 0 0 11
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 7 2 1 0 0 0 0 0 10
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 10 0 0 0 0 0 0 0 10
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 7 3 0 0 0 0 0 0 10
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 6 2 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
UMR_S938_Pr. Le Bouc INSERM 0 0 0 0 0 0 0 8 8
Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale 8 0 0 0 0 0 0 0 8
Undiagnosed Diseases Network,NIH 4 3 1 0 0 0 0 0 8
Ege University Pediatric Genetics,Ege University 3 0 5 0 0 0 0 0 8
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 7 0 1 0 0 0 0 0 8
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 7 0 0 0 0 0 0 0 7
SingHealth Duke-NUS Institute of Precision Medicine 0 2 4 1 0 0 0 0 7
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 1 4 0 0 0 0 0 7
Mendelics 5 0 1 0 0 0 0 0 6
Cytogenetics Laboratory,Banaras Hindu University 2 4 0 0 0 0 0 0 6
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 2 4 0 0 0 0 0 6
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 2 2 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 3 0 0 0 0 0 6
Broad Institute Rare Disease Group,Broad Institute 4 0 2 0 0 0 0 0 6
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 4 0 0 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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 0 0 0 0 0 0 0 5
Leiden Muscular Dystrophy (MYL2) 0 0 0 0 0 0 0 5 5
Leiden Muscular Dystrophy (TPM1) 0 0 0 0 0 0 0 5 5
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 4 1 0 0 0 0 0 0 5
Institute of Human Genetics,University of Goettingen 0 3 1 0 0 0 0 0 4
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 2 2 0 0 0 0 0 4
Center for Genetic Medicine Research,Children's National Medical Center 0 4 0 0 0 0 0 0 4
Donald Williams Parsons Laboratory,Baylor College of Medicine 3 1 0 0 0 0 0 0 4
Institute of Human Genetics,University of Wuerzburg 0 4 0 0 0 0 0 0 4
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 3 1 0 0 0 0 0 0 4
Institute of Human Genetics,Cologne University 1 0 2 0 0 0 0 0 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 0 0 0 0 3
Leiden Muscular Dystrophy (MYL3) 0 0 0 0 0 0 0 3 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 0 0 0 3
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 0 0 3
ITMI 0 0 3 0 0 0 0 0 3
Medical Genetic Department,Shiraz University Of Medical Science 3 0 0 0 0 0 0 0 3
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 2 0 0 0 0 0 0 3
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 2 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
Tehran Medical Genetics Laboratory 0 3 0 0 0 0 0 0 3
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 1 2 0 0 0 0 0 3
Division of Paediatric Endocrinology and Diabetes,University of Luebeck 2 1 0 0 0 0 0 0 3
Genetic Diseases Diagnostic Center,Koc University Hospital 0 3 0 0 0 0 0 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 2 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 0 0 2
Neurogenetics Laboratory,Royal Perth Hospital 2 0 0 0 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 0 0 2
Gene Discovery Core-Manton Center,Boston Children's Hospital 2 0 0 0 0 0 0 0 2
Medical Genetics Section,University of Rome Tor Vergata 2 0 0 0 0 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 1 0 1 0 0 0 0 0 2
Heart Center,Academic Medical Center Amsterdam 1 0 0 0 1 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 1 1 0 0 0 0 0 0 2
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 1 1 0 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 0 0 2
Stephanie Ware Laboratory,Indiana University School of Medicine 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 0 0 2
Klaassen Lab,Charite University Medicine Berlin 1 1 0 0 0 0 0 0 2
Claritas Genomics 1 0 0 0 0 0 0 0 1
PreventionGenetics 0 1 0 0 0 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 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
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 1 0 0 0 0 0 0 0 1
Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences 1 0 0 0 0 0 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 1 0 0 0 0 0 0 1
Medical Genetics UMG,Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 1 0 0 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 0 0 1
emedgene Technologies 1 0 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 0 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 1 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
Center for Statistical Genetics,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Cardiovascular Research Laboratory,Shanghai Chest Hospital, Shanghai Jiao Tong University 1 0 0 0 0 0 0 0 1
Pediatrics Research Institute,Children's Hospital of Fudan University 1 0 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 0 1
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center.,Columbia University Medical Center 1 0 0 0 0 0 0 0 1
Columbia University Medical Center,Columbia University 1 0 0 0 0 0 0 0 1
Caglayan Lab,Istanbul Bilim University 0 1 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 1 0 0 0 0 0 0 0 1
Jacobi Internal Medicine Residency Program,Jacobi Medical Center 1 0 0 0 0 0 0 0 1
Amyloidosis Center,Boston University School of Medicine 1 0 0 0 0 0 0 0 1
Department of Medical Bioinformatics,Sinopath Diagnosis 0 1 0 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
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 0 0 0 0 0 1
Genetics Molecular Biology Lab,Hospital Juan P Garrahan 0 0 1 0 0 0 0 0 1
Hakim Medical Genetics Center Laboratory,Neyshabur University of Medical Sciences 1 0 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 0 1 0 0 0 0 0 0 1

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