ClinVar Miner

Variants studied for cardiomyopathy

Included ClinVar conditions (496):
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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 affects risk factor other not provided total
6115 4408 33274 15885 5184 13 6 6 230 59683

Gene and significance breakdown #

Total genes and gene combinations: 477
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
TTN 142 1070 5404 3597 874 0 0 0 9 9961
DMD 1114 179 993 585 233 0 0 0 5 2985
DSP 190 90 1253 554 87 0 0 0 0 1989
RYR2 6 8 1146 780 135 0 0 0 0 1914
ALMS1 237 153 892 564 97 0 0 0 2 1860
MYBPC3 419 216 945 478 88 0 0 0 5 1852
FLNC 130 35 1141 451 89 0 0 0 0 1838
MYH7 143 236 1108 466 52 0 0 0 2 1741
SYNE1 35 11 1015 365 344 0 0 0 0 1609
SYNE2 1 0 849 325 327 0 0 0 0 1369
GAA 248 228 576 317 59 0 0 3 1 1208
AGL 167 143 523 203 45 0 0 0 1 1003
PKP2 112 73 518 235 53 0 0 0 0 877
DSG2 38 36 570 257 52 0 1 0 0 839
ACADVL 173 135 390 161 28 0 0 0 0 750
RBM20 11 15 544 180 41 0 0 0 0 711
MYH6 7 2 454 202 73 0 0 0 0 683
DSC2 18 19 465 215 31 0 0 0 0 669
CDKN1C 47 6 264 211 21 0 0 0 0 547
ACTN2 8 3 397 160 38 0 0 0 1 541
MYPN 11 5 381 123 51 0 0 0 0 538
SLC22A5 103 79 242 94 23 0 0 0 104 504
EPG5 46 16 302 98 46 0 0 0 0 499
MYOM1 0 1 318 124 51 0 0 0 0 492
PRKAG2 15 8 319 172 27 0 0 0 0 485
LAMA4 2 0 305 134 58 0 0 0 0 470
JUP 13 5 341 125 30 0 0 0 0 462
GLA, RPL36A-HNRNPH2 191 107 127 69 13 0 0 1 3 459
VCL 3 9 339 114 35 0 0 0 1 456
LMNA 64 66 207 134 26 0 0 0 3 449
PRDM16 6 0 264 134 44 0 0 0 0 444
ABCC9 7 5 301 129 36 0 0 0 1 438
SOS1 28 21 283 104 46 0 0 0 2 436
DES 54 25 265 81 26 0 0 0 0 417
BAG3 45 18 273 75 26 0 0 0 0 408
TMEM43 4 1 277 135 24 0 0 0 0 406
TNNT2 35 46 237 106 19 0 0 0 0 386
ABCC6 88 119 148 12 32 0 0 0 2 382
TPM1 13 35 201 115 14 0 0 0 5 342
PTPN11 96 55 151 55 52 0 0 0 6 339
ACTC1, GJD2-DT 10 12 220 105 15 0 0 0 0 333
MHRT, MYH7 9 16 219 99 14 0 0 0 0 328
SPRED1 53 8 178 55 30 0 0 0 0 318
RAF1 30 31 207 85 37 0 0 0 2 316
TNNI3 33 33 207 77 9 0 1 0 0 314
NEBL 0 1 192 75 30 0 0 0 0 296
LAMP2 48 17 150 67 61 0 0 0 0 295
CTNNA3 2 0 199 48 30 0 0 0 0 277
BRAF 47 74 123 54 27 0 0 0 11 266
ETFDH 51 35 117 63 10 0 0 0 0 255
SGCA 41 44 103 76 9 0 0 0 0 248
GBE1 61 19 84 83 24 0 0 0 2 241
CBL 11 3 151 57 22 0 0 0 0 240
HRAS, LRRC56 18 20 135 72 12 0 0 0 0 240
SCN5A 17 4 167 32 19 0 0 0 7 231
NEXN 5 2 167 38 19 0 0 0 0 220
JPH2 3 2 146 56 21 0 0 0 0 217
GYS1 7 5 159 31 17 0 0 0 2 215
SOS2 6 6 116 64 23 0 0 0 1 209
DOLK 6 1 152 52 9 0 0 0 0 204
NSD1 55 14 72 24 31 0 0 0 0 196
DM1, DMPK, LOC107075317, LOC109461477 179 0 0 0 15 0 0 1 0 193
EMD 48 5 83 54 8 0 0 0 0 193
MYL2 8 13 118 58 13 0 0 0 2 191
SUN1 0 0 124 43 24 0 0 0 0 191
TXNRD2 0 0 134 39 16 0 0 0 0 188
MYO6 10 1 98 25 50 0 0 0 0 183
TTR 62 21 77 26 15 0 0 0 1 183
MYL3 5 7 121 57 13 0 0 0 3 182
CSRP3 7 14 138 31 8 0 0 0 1 180
MAP2K2 9 9 82 63 29 0 0 0 1 172
MYLK2 0 1 110 50 23 0 0 0 0 172
SGCD 13 9 98 43 10 0 0 0 0 168
SGCG 31 23 68 43 8 0 0 0 0 163
SGCB 36 24 67 43 4 0 0 0 0 159
FHL1 29 8 80 30 10 0 0 0 1 155
KRAS 22 20 67 46 5 0 0 0 3 153
ELAC2 11 3 93 34 13 0 0 0 0 152
IDS 76 20 13 29 14 6 0 0 0 149
GAREM2, HADHA 13 28 57 52 12 0 0 0 0 148
EYA4 1 3 104 39 8 0 0 0 0 147
PDGFRA 0 0 75 16 52 0 0 0 0 142
TAFAZZIN 28 19 67 34 7 0 0 0 0 142
HADHA 16 39 50 51 4 0 0 0 0 141
IDS, LOC106050102 67 19 10 25 25 7 0 0 0 140
RBCK1 19 2 87 24 3 0 0 0 0 133
NRAS 9 16 75 31 9 0 0 0 1 132
LDB3 9 2 87 25 24 0 0 0 0 131
TCAP 8 4 97 30 4 0 0 0 1 131
IDUA 40 49 42 4 0 0 0 0 0 130
SUN2 0 0 68 45 17 0 0 0 0 130
FKTN 11 1 102 14 4 0 0 0 0 126
PDLIM3 0 0 85 25 16 0 0 0 1 126
SHOC2 3 3 74 24 28 0 0 0 1 125
PSEN1 1 2 94 21 5 0 0 0 0 122
TNNC1 7 5 88 30 5 0 0 0 0 122
MANBA 13 5 69 14 23 0 0 0 1 118
DTNA 2 1 69 36 16 0 0 0 0 117
MTO1 13 11 69 23 6 0 0 0 0 117
LOC101927055, TTN 0 3 69 43 17 0 0 0 0 116
ETFA 14 3 58 42 5 0 0 0 0 115
EYA4, TARID 1 1 83 21 11 0 0 0 0 115
ACAD8 10 2 81 14 15 0 0 0 1 111
CALR3 1 0 66 26 17 0 0 0 0 104
PGM1 18 3 53 22 15 0 0 0 1 99
CRYAB 7 4 69 22 4 0 0 0 0 97
LIMS2 2 0 64 17 11 0 0 0 0 94
MAP2K1 18 14 30 33 10 0 0 0 3 91
FUCA1 24 6 42 13 10 0 0 0 0 87
ILK, TAF10 0 0 58 25 5 0 0 0 0 87
ACAD9 16 8 49 10 12 0 0 0 0 86
ZFPM2 3 0 35 23 27 0 0 0 0 85
FHL2 0 0 57 17 12 0 0 0 0 82
GBA, LOC106627981 51 32 5 0 0 0 0 0 1 81
LOC114827851, MYH6 0 0 55 17 10 0 0 0 0 80
SLC25A20 18 5 51 5 3 0 0 0 0 80
MYOZ2 2 0 51 17 10 0 0 0 0 73
RRAS 0 0 42 26 4 0 0 0 0 72
COQ4 19 6 36 10 6 0 0 0 0 70
CEP85L, PLN 8 4 58 4 1 0 0 0 0 69
TP53 0 65 0 0 0 0 0 0 0 65
ANKRD1 0 0 43 15 14 0 0 0 0 64
RIT1 25 8 30 8 1 0 0 0 1 63
AGK 13 6 33 7 7 0 0 0 0 62
PSEN2 1 0 38 14 10 0 0 0 0 61
MAP3K1 6 4 11 10 27 0 0 0 0 58
IDUA, SLC26A1 6 6 10 32 3 0 0 1 0 55
MT-TT 1 0 6 10 36 0 0 0 0 53
GATAD1 1 0 32 16 4 0 0 0 0 52
LOC114827850, MYL2 4 6 32 14 6 0 0 0 3 52
LZTR1 20 9 24 0 0 0 0 0 1 51
ESR1, SYNE1 0 0 32 3 12 0 0 0 0 46
GJA5 0 0 35 7 2 0 0 0 0 43
AGK, DENND11 1 2 29 4 5 0 0 0 0 41
DSC2, DSCAS 2 2 30 8 2 0 0 0 0 41
COQ9 2 1 23 7 7 0 0 0 0 39
SLC25A3 4 0 26 2 6 0 0 0 0 38
ETFB 4 2 17 11 5 0 0 0 0 37
NR5A1 19 8 4 1 4 0 0 0 0 34
SRY 27 1 4 1 1 0 0 0 0 34
MT-TH 1 1 12 4 15 0 0 0 0 33
MT-TF 4 2 5 6 15 0 0 0 0 32
MT-TL1 12 3 7 4 6 0 0 0 0 31
MT-TW 5 0 8 5 13 0 0 0 0 31
ACTA1 0 0 20 4 6 0 0 0 0 30
DMD, MIR3915, MIR548F5 26 1 3 0 0 0 0 0 0 30
ACADVL, DLG4 0 4 19 4 2 0 0 0 0 29
MT-TC 1 0 6 4 19 0 0 0 0 29
MT-TG 1 1 11 5 11 0 0 0 0 29
MT-TK 5 2 5 7 10 0 0 0 0 29
NCAPH2, SCO2 9 2 15 3 0 0 0 0 0 28
MT-TD 0 1 9 6 11 0 0 0 0 27
MT-TQ 1 1 4 4 17 0 0 0 0 27
MT-TV 2 3 10 6 5 0 0 0 0 26
ACAD9, CFAP92 5 1 12 2 6 0 0 0 0 25
CAV3 1 1 14 4 8 0 0 0 0 25
DPM3 4 2 17 1 2 0 0 0 1 25
MT-TS2 0 2 7 2 13 0 0 0 0 24
ATAD3A 3 4 16 0 0 0 0 0 1 23
SDHA 2 0 19 1 0 0 0 0 1 23
DNAJC19 4 1 10 4 3 0 0 0 0 22
DNASE1L1, TAFAZZIN 4 1 10 7 1 0 0 0 0 22
MT-TI 3 4 5 2 10 0 0 0 0 22
MT-TS1 4 0 5 3 10 0 0 0 0 22
DNAAF3, TNNI3 0 0 5 18 5 0 0 0 0 21
LDB3, LOC110121486 1 0 19 1 4 0 0 0 0 21
LOC110121269, SCN5A 0 0 16 5 1 0 1 0 0 21
TMEM43, XPC 0 0 0 21 0 0 0 0 0 21
ANK2 0 0 10 6 4 0 0 0 0 20
CASQ2 0 0 10 5 6 0 0 0 0 20
MIB1 2 3 6 7 5 0 0 0 0 20
MT-TL2 2 1 6 2 9 0 0 0 0 20
MT-TY 2 0 9 5 4 0 0 0 0 20
DHH 10 2 4 1 2 0 0 0 0 19
MT-TA 1 0 6 4 8 0 0 0 0 19
MT-TP 1 1 9 2 6 0 0 0 0 19
TGFB3 3 0 14 3 0 0 0 0 0 19
TMPO 0 0 9 7 8 0 0 0 0 19
FTL, GYS1 0 0 9 7 6 0 0 0 0 18
GTPBP3 7 4 6 0 1 0 0 0 1 18
MT-TR 0 3 3 4 8 0 0 0 0 18
AKAP9 0 0 2 6 9 0 0 0 0 17
KCNQ1 5 1 9 1 1 0 0 0 0 17
MAP2K1, SNAPC5 0 0 13 3 3 0 0 0 0 17
MT-ND1 16 3 1 0 0 0 0 0 0 17
MT-TE 2 2 2 2 9 0 0 0 0 17
NR0B1 10 0 4 0 3 0 0 0 0 17
CCDC40, GAA 0 0 2 7 7 0 0 0 0 16
MIR3936HG, SLC22A5 1 1 5 1 6 0 0 0 6 15
MT-ND5 12 2 2 0 0 0 0 0 0 15
MT-TN 1 0 5 2 7 0 0 0 0 15
ALPK3 6 6 2 0 0 0 0 0 0 14
TRPM4 0 0 5 6 3 0 0 0 0 14
DMPK 7 1 3 0 2 0 0 0 0 13
FXN 8 1 2 1 1 0 0 0 0 13
HCN4 0 0 7 3 3 0 0 0 0 13
MT-ND6 11 1 0 0 0 0 1 0 1 13
MT-TM 0 1 5 1 6 0 0 0 0 13
SACS, SGCG 2 0 1 7 3 0 0 0 0 13
CTF1 0 0 6 3 3 0 0 0 0 12
GLA 12 0 0 0 0 0 0 0 0 12
COX15 5 0 3 0 2 0 0 0 0 10
FLAD1 9 0 0 1 0 0 0 0 0 10
GTPBP1, SUN2 0 0 6 2 1 0 0 0 0 9
CACNA1C 0 1 4 2 1 0 0 0 0 8
DMD, MIR548F5 6 2 0 0 0 0 0 0 0 8
MT-ND4 5 0 3 0 0 0 0 0 1 8
PPP1CB 5 3 0 1 0 0 0 0 0 8
XK 8 0 0 0 0 0 0 0 0 8
H19, H19-ICR, MRPL23 1 0 0 0 0 0 0 0 6 7
HRAS 0 0 7 0 0 0 0 0 0 7
KCNE1 0 1 4 0 2 0 0 0 0 7
MYH7B 3 4 0 0 0 0 0 0 0 7
NCAPH2, SCO2, TYMP 1 0 1 1 4 0 0 0 0 7
PPP1R13L 1 5 2 0 0 0 0 0 0 7
COMT, TXNRD2 0 0 6 0 0 0 0 0 0 6
ILK 0 0 4 1 1 0 0 0 0 6
KCNH2 0 1 3 2 0 0 0 0 0 6
LAMA2 0 0 6 0 0 0 0 0 0 6
MIPEP 1 0 5 0 0 0 0 0 0 6
PLEC 0 0 2 4 0 0 0 0 0 6
SLC25A4 4 0 2 0 0 0 0 0 0 6
TRIM63 1 1 4 1 0 0 0 0 0 6
​intergenic 4 0 0 0 1 0 0 0 0 5
ACADL 0 0 5 0 0 0 0 0 0 5
AKR1C2 4 0 0 0 1 0 0 0 0 5
B2M 0 5 0 0 0 0 0 0 0 5
COQ9, LOC112469007 1 0 4 0 0 0 0 0 0 5
DMD, MIR3915 3 1 1 0 0 0 0 0 0 5
GATA4 1 0 1 0 3 0 0 0 0 5
HMGCL 0 0 3 0 2 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 5
LOC100128979, TPM1 0 0 3 2 0 0 0 0 0 5
MT-CYB 4 0 2 0 0 0 0 0 0 5
PTPN11, RPL6 0 0 2 1 3 0 0 0 0 5
RRAS2 5 0 0 0 0 0 0 0 0 5
AP3M1, VCL 0 0 2 1 1 0 0 0 0 4
CACNB2, NSUN6 0 0 1 2 1 0 0 0 0 4
CDK4 0 4 0 0 0 0 0 0 0 4
GBA 3 0 1 0 0 0 0 0 0 4
LIG4 1 0 3 0 0 0 0 0 0 4
MAPK1 4 0 0 0 0 0 0 0 0 4
MIR208A, MYH6, MYH7 0 0 4 0 0 0 0 0 0 4
MIR208B, MYH6, MYH7 0 0 4 0 0 0 0 0 0 4
MRAS 3 1 0 0 0 0 0 0 0 4
NF1 0 4 0 0 0 0 0 0 0 4
PIK3CA 0 4 0 0 0 0 0 0 0 4
PLN 4 0 0 0 0 0 0 0 0 4
SCO2 0 0 3 0 1 0 0 0 0 4
TNNI3, TNNT1 0 0 1 3 0 0 0 0 0 4
A2ML1 0 0 2 1 0 0 0 0 0 3
ACTC1 0 0 2 0 1 0 0 0 0 3
CAV3, SSUH2 0 0 2 1 0 0 0 0 0 3
CBX2 2 0 1 0 0 0 0 0 2 3
COA6 3 0 0 0 0 0 0 0 0 3
DES, DES-LCR 0 0 2 1 0 0 0 0 0 3
DNMT1 0 0 3 0 0 0 0 0 0 3
DOLK, NUP188 0 0 2 0 1 0 0 0 0 3
FGFR3 3 1 0 0 0 0 0 0 0 3
FKRP 0 0 1 0 2 0 0 0 0 3
GPD1L 0 0 1 2 0 0 0 0 0 3
GPR17, LIMS2 0 0 3 0 0 0 0 0 0 3
HADHA, HADHB 0 0 0 2 1 0 0 0 0 3
IDH2 0 3 0 0 0 0 0 0 0 3
KCNE2 0 0 2 0 1 0 0 0 0 3
KCNJ5 0 0 1 1 1 0 0 0 0 3
MRPL44 1 1 1 0 0 0 0 0 1 3
MT-ATP6 2 0 0 0 0 0 0 0 1 3
MT-ND2 2 0 1 0 0 0 0 0 0 3
NKX2-5 1 0 2 0 0 0 0 0 0 3
SCO2, TYMP 0 0 0 0 3 0 0 0 0 3
SOX9 3 0 0 0 0 0 0 0 0 3
TBX20 0 0 2 1 0 0 0 0 0 3
UQCRFS1 3 0 0 0 0 0 0 0 0 3
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 1 0 0 0 0 0 0 2
ACADVL, DVL2 2 2 0 0 0 0 0 0 0 2
CACNB2 0 0 1 1 0 0 0 0 0 2
CASQ2, VANGL1 0 0 0 0 2 0 0 0 0 2
CDH2 2 0 0 0 0 0 0 0 0 2
DM1, DMPK, LOC107075317 0 0 1 1 0 0 0 0 0 2
DMRT1 0 1 1 0 0 0 0 0 0 2
DNM1L, FGD4, PKP2, YARS2 0 0 2 0 0 0 0 0 0 2
DSP, LOC110121274 2 0 0 0 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 0 0 0 2
FAT1 0 2 0 0 0 0 0 0 0 2
FHOD3 0 0 2 0 0 0 0 0 0 2
GBA2 0 0 2 0 0 0 0 0 0 2
GYS1, LOC119369037 1 0 1 0 0 0 0 0 0 2
H19 2 0 0 0 0 0 0 0 0 2
H19-ICR, MRPL23 0 0 0 0 0 0 0 0 2 2
IFT43, TGFB3 0 0 0 2 0 0 0 0 0 2
KCNJ8 0 0 0 2 0 0 0 0 0 2
KMT2C 0 2 0 0 0 0 0 0 0 2
LOC114827827, NPPA 1 0 1 0 0 0 0 0 0 2
LOC114827851, MHRT, MIR208B, MYH6, MYH7 0 0 2 0 0 0 0 0 0 2
MKRN2, RAF1 0 0 2 0 0 0 0 0 0 2
MT-CO1, MT-TS1 2 0 0 0 0 0 0 0 0 2
MT-CO3 2 0 0 0 0 0 0 0 0 2
MT-ND3 2 0 0 0 0 0 0 0 0 2
NDUFA13 2 0 0 0 0 0 0 0 0 2
NDUFAF5 0 2 0 0 0 0 0 0 0 2
PIK3R2 0 2 0 0 0 0 0 0 0 2
PMPCA 2 0 0 0 0 0 0 0 0 2
SLC30A5 0 2 1 0 0 0 0 0 0 2
SNTA1 0 0 1 0 1 0 0 0 0 2
TBX5 1 0 0 1 0 0 0 0 0 2
TET2 0 2 0 0 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 0 1
ABCC1, ABCC6, CEP20, LOC112340382, LOC113939949, MYH11, NDE1 1 0 0 0 0 0 0 0 0 1
ABCC1, ABCC6, CEP20, LOC112340382, MYH11 1 0 0 0 0 0 0 0 0 1
ABCC2 0 1 0 0 0 0 0 0 0 1
ABCD1 0 1 0 0 0 0 0 0 0 1
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NLRX1, PDZD3 0 0 1 0 0 0 0 0 0 1
ACADVL, ALOX12, ASGR1, ASGR2, BCL6B, C17orf49, CLEC10A, DLG4, FBXO39, MIR195, MIR497HG, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, XAF1 1 0 0 0 0 0 0 0 0 1
ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, 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 0 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 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 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 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 1 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 0 1
ACP2, ARFGAP2, C11orf49, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 0 0 0 1
ACSL6, CDC42SE2, CSF2, FNIP1, HINT1, IL3, LYRM7, P4HA2, PDLIM4, RAPGEF6, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 0 1
ACTN2, LOC110121264, LOC110121265, LOC110121266, MT1HL1, MTR, RYR2 0 0 1 0 0 0 0 0 0 1
ACTN2, MT1HL1, MTR, RYR2 0 0 1 0 0 0 0 0 0 1
ACTRT2, ARHGEF16, C1orf174, CALML6, CCDC27, CEP104, CFAP74, DFFB, FAAP20, GABRD, GNB1, HES5, LRRC47, MEGF6, MIR551A, MMEL1, MORN1, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, RER1, SKI, SLC35E2A, SMIM1, TMEM52, TNFRSF14, TP73, TPRG1L, TTC34, WRAP73 1 0 0 0 0 0 0 0 0 1
ACTRT2, ARHGEF16, CALML6, CFAP74, FAAP20, GABRD, GNB1, HES5, MEGF6, MMEL1, MORN1, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, RER1, SKI, TMEM52, TNFRSF14, TTC34 1 0 0 0 0 0 0 0 0 1
ADGRV1 0 0 1 0 0 0 0 0 0 1
AGK, AGK-DT 0 0 1 0 0 0 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, ENG, FAM102A, FPGS, GLE1, GOLGA2, LCN2, LOC102723566, LOC106783495, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC113839516, LOC113839517, LOC113839524, LOC114827831, LOC116216099, LOC116216100, MIR199B, MIR219A2, MIR219B, MIR2861, MIR3154, MIR3911, MIR3960, MIR4672, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRR-TCT3-1, TRUB2, TTC16, URM1 1 0 0 0 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 0 1
AKAP9, LOC121175350 0 0 0 1 0 0 0 0 0 1
AKR1C4 0 0 0 0 0 0 1 0 0 1
ALMS1, CCT7, EGR4, EMX1, FBXO41, NOTO, PRADC1, RAB11FIP5, SFXN5, SMYD5, SPR 0 0 1 0 0 0 0 0 0 1
AMER1 0 0 1 0 0 0 0 0 0 1
ANKRD37, C4orf47, CCDC110, CFAP97, LOC105377590, LOC121056754, LRP2BP, PDLIM3, SLC25A4, SNX25, UFSP2 0 0 1 0 0 0 0 0 0 1
ANKRD37, C4orf47, CCDC110, CFAP97, LRP2BP, PDLIM3, SLC25A4, SNX25, UFSP2 0 0 1 0 0 0 0 0 0 1
APH1B, CA12, FBXL22, HERC1, LACTB, LOC100128979, RAB8B, RPS27L, TPM1, USP3 0 0 1 0 0 0 0 0 0 1
APOA1 0 0 0 1 0 0 0 0 0 1
APOB 0 0 0 1 0 0 0 0 0 1
ARF6, DNAAF2, KLHDC1, KLHDC2, LINC01588, LINC01599, LOC100506499, MIR6076, NEMF, POLE2, RN7SL2, RN7SL3, SOS2, VCPKMT 0 0 1 0 0 0 0 0 0 1
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 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 0 1
ARHGEF33, ATL2, CYP1B1, DHX57, GALM, GEMIN6, HNRNPLL, MORN2, SOS1, SOS1-IT1, SRSF7 0 0 1 0 0 0 0 0 0 1
ARID4A 0 1 0 0 0 0 0 0 0 1
ASPA, CTNS, EMC6, HASPIN, ITGAE, P2RX5, SHPK, TAX1BP3, TRPV1, TRPV3 0 0 1 0 0 0 0 0 0 1
ATAD3A, ATAD3B 1 0 0 0 0 0 0 0 0 1
ATAD3A, ATAD3B, ATAD3C 1 0 0 0 0 0 0 0 0 1
ATM 0 1 0 0 0 0 0 0 0 1
ATP6AP2, BCOR, CASK, CXorf38, DDX3X, EFHC2, GPR34, GPR82, MAOA, MAOB, MED14, MPC1L, NDP, NYX, USP9X 1 0 0 0 0 0 0 0 0 1
AURKA 0 1 0 0 0 0 0 0 0 1
BAP1 0 1 0 0 0 0 0 0 0 1
BARD1 0 1 0 0 0 0 0 0 0 1
BBIP1, LOC111875823, LOC116216121, MIR4680, MIR548E, PDCD4, RBM20, SHOC2, SMC3 1 0 0 0 0 0 0 0 0 1
BBLN, 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 0 1
BCORL1 0 1 0 0 0 0 0 0 0 1
C1QTNF5, CBL, MCAM, MFRP, NECTIN1, OAF, POU2F3, RNF26, THY1, TRIM29, USP2 0 0 1 0 0 0 0 0 0 1
C1QTNF9, C1QTNF9B, MIPEP, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 1 0 0 0 0 0 0 0 0 1
CASR 0 1 0 0 0 0 0 0 0 1
CAVIN4 0 0 1 0 0 0 0 0 0 1
CDH23 0 0 1 0 0 0 0 0 0 1
CDKN2C 0 1 0 0 0 0 0 0 0 1
CELSR3 0 0 1 0 0 0 0 0 0 1
CHRM2, LOC349160 0 0 1 0 0 0 0 0 0 1
CLTC 1 0 0 0 0 0 0 0 0 1
COA5 1 0 0 0 0 0 0 0 0 1
COMT, GNB1L, LOC110120888, RTL10, TBX1, TXNRD2 0 0 1 0 0 0 0 0 0 1
CRBN, TRNT1 0 1 0 0 0 0 0 0 0 1
CREBBP 0 1 0 0 0 0 0 0 0 1
CSNK2A1, RBCK1, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 0 0 1 0 0 0 0 0 0 1
CTNNA3, LOC101928961, LRRTM3 0 0 1 0 0 0 0 0 0 1
CYLD 0 1 0 0 0 0 0 0 0 1
DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 0 1
DCX 0 1 0 0 0 0 0 0 0 1
DIAPH1 0 0 0 1 0 0 0 0 0 1
DIS3 0 1 0 0 0 0 0 0 0 1
DMD, FTHL17 0 0 0 0 1 0 0 0 0 1
DMPK, LOC107075317 0 0 1 0 0 0 0 0 0 1
DNAAF3, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 1 0 1 0 0 0 0 1
DNMT3A 0 1 0 0 0 0 0 0 0 1
DPP6 0 0 1 0 0 0 0 0 0 1
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR 0 0 1 0 0 0 0 0 0 1
DSG2, TTR 0 0 1 0 0 0 0 0 0 1
EIF1AX 0 1 0 0 0 0 0 0 0 1
EMILIN2, LPIN2, MYOM1, SMCHD1 0 0 1 0 0 0 0 0 0 1
ERF 0 1 0 0 0 0 0 0 0 1
ESR1, FBXO5, LINC02840, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 0 1
FAM135A 0 0 0 1 0 0 0 0 0 1
FAM98B, LINC02694, RASGRP1, SPRED1 1 0 0 0 0 0 0 0 0 1
FLT3 0 1 0 0 0 0 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 0 0 0 0 0 0 1
FTL, GYS1, LOC119369037 0 0 1 0 1 0 0 0 0 1
FXN, LOC108510657 1 0 0 0 0 0 0 0 0 1
GALNT11, GALNTL5, KMT2C, PRKAG2, XRCC2 0 0 1 0 0 0 0 0 0 1
GCOM1, MYZAP 0 1 0 0 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 0 0 0 1
GPR149 0 0 1 0 0 0 0 0 0 1
GSK3A 0 0 1 0 0 0 0 0 0 1
H1-4 0 1 0 0 0 0 0 0 0 1
H19-ICR 1 0 0 0 0 0 0 0 0 1
H2AC16 0 1 0 0 0 0 0 0 0 1
H2AC17 0 1 0 0 0 0 0 0 0 1
H3C1 0 1 0 0 0 0 0 0 0 1
HAND2 1 0 0 0 0 0 0 0 0 1
HDAC4 0 1 0 0 0 0 0 0 0 1
IL7R 0 1 0 0 0 0 0 0 0 1
JPH2, LOC108353820 0 0 1 0 0 0 0 0 0 1
KCND3 0 0 0 0 1 0 0 0 0 1
KCNE3, LIPT2 0 0 0 1 0 0 0 0 0 1
KCNJ2 0 0 1 0 0 0 0 0 0 1
KCNQ1OT1 1 0 0 0 0 0 0 0 0 1
KDM5C 0 1 0 0 0 0 0 0 0 1
KIF5B 0 0 1 0 0 0 0 0 0 1
KLF5 1 0 0 0 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 0 0 1
LATS1 0 1 0 0 0 0 0 0 0 1
LOC102723692, XYLT1 0 0 1 0 0 0 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 0 0 0 0 1
LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC120851201, MIR4251, PRDM16 0 0 1 0 0 0 0 0 0 1
LOC110121276, LOC110121277, LOC110121278, LOC110121279, PRKAG2 0 0 1 0 0 0 0 0 0 1
LOC111875823, RBM20 0 0 1 0 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 0 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 0 0 0 1
MADD, MYBPC3 1 0 0 0 0 0 0 0 0 1
MAP2K1, TIPIN 0 0 0 1 0 0 0 0 0 1
MASP1 0 0 1 0 0 0 0 0 0 1
MGA 0 1 0 0 0 0 0 0 0 1
MIR208A, MIR208B, MYH6, MYH7 0 0 1 0 0 0 0 0 0 1
MIR208B, MYH7 0 0 1 0 0 0 0 0 0 1
MLH1 0 0 1 0 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 0 0 0 1
MST1R 0 1 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8 1 0 0 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 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 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 1 0 0 0 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 0 0 0 1
MT-RNR1 1 0 0 0 0 0 0 0 0 1
MYD88 0 1 0 0 0 0 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 0 0 0 1
MYOT, PKD2L2-DT 0 0 1 0 0 0 0 0 0 1
NCOR2 0 1 0 0 0 0 0 0 0 1
NDUFB11 0 1 0 0 0 0 0 0 0 1
NDUFS1 0 1 0 0 0 0 0 0 0 1
NDUFS2 0 1 0 0 0 0 0 0 0 1
NEDD4L 0 0 1 0 0 0 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 0 0 0 0 1
P2RX5-TAX1BP3, TAX1BP3 0 0 1 0 0 0 0 0 0 1
P2RY8 0 1 0 0 0 0 0 0 0 1
P4HA2, PDLIM4, SLC22A4, SLC22A5 1 0 0 0 0 0 0 0 0 1
PITX1 0 1 0 0 0 0 0 0 0 1
PLEKHA3, TTN 0 1 0 0 0 0 0 0 0 1
PRICKLE3 0 0 0 0 0 0 1 0 0 1
RECQL4 0 1 0 0 0 0 0 0 0 1
RNF123 0 0 1 0 0 0 0 0 0 1
RNF167 0 0 0 0 1 0 0 0 0 1
RNF31 0 0 1 0 0 0 0 0 0 1
RP1 0 0 1 0 0 0 0 0 0 1
RXRA 0 1 0 0 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 0 0 1
SAMHD1 0 1 0 0 0 0 0 0 0 1
SCN1B 1 0 0 0 0 0 0 0 0 1
SCN2B 0 0 1 0 0 0 0 0 0 1
SCN3B 0 0 0 1 0 0 0 0 0 1
SCN4B 0 0 1 0 0 0 0 0 0 1
SGK1 0 1 0 0 0 0 0 0 0 1
SH2B3 0 1 0 0 0 0 0 0 0 1
STK38 0 0 1 0 0 0 0 0 0 1
TCF3 0 1 0 0 0 0 0 0 0 1
TET3 0 1 0 0 0 0 0 0 0 1
TRAF5 0 1 0 0 0 0 0 0 0 1
TSFM 1 0 0 0 0 0 0 0 0 1
TUBA1A 1 0 0 0 0 0 0 0 0 1
UQCRC1 0 1 0 0 0 0 0 0 0 1
XYLT2 0 0 1 0 0 0 0 0 0 1
YAP1 0 1 0 0 0 0 0 0 0 1
ZBTB17 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 298
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
Invitae 3498 1477 21780 11103 2968 0 0 4 0 40825
Illumina Clinical Services Laboratory,Illumina 23 20 5940 1461 1699 0 0 0 0 8792
Color Health, Inc 62 40 3799 3002 445 0 0 0 0 7348
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 81 133 1280 569 750 0 0 0 0 2813
Counsyl 89 634 701 254 7 0 0 1 0 1686
OMIM 1204 1 15 0 0 0 4 0 0 1223
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 481 548 2 0 0 0 0 0 0 1031
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 165 55 344 92 261 0 0 0 0 917
Natera, Inc. 108 21 508 131 127 0 0 0 0 895
Blueprint Genetics 72 149 442 37 3 0 0 0 0 703
Integrated Genetics/Laboratory Corporation of America 390 171 19 20 79 0 0 0 0 679
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 22 23 103 239 185 0 0 0 0 572
Baylor Genetics 188 44 307 2 12 0 0 0 0 552
Fulgent Genetics,Fulgent Genetics 139 19 387 2 0 0 0 0 0 547
Mendelics 237 46 87 42 76 0 0 0 0 487
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 74 81 288 10 7 0 1 0 0 461
PXE International 73 114 145 7 31 0 0 0 0 370
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 22 7 43 153 95 0 0 0 0 320
ClinGen RASopathy Variant Curation Expert Panel 74 22 31 60 128 0 0 0 0 315
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 58 12 53 53 132 0 0 0 0 308
Broad Institute Rare Disease Group, Broad Institute 87 71 60 54 13 0 0 0 0 284
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 64 39 140 14 11 0 0 0 0 268
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 27 1 29 62 128 0 0 0 0 247
Genetics and Genomics Program,Sidra Medicine 4 10 153 76 0 0 0 0 0 242
Service de Génétique Moléculaire,Hôpital Robert Debré 14 50 95 53 0 0 0 0 0 212
Centre for Mendelian Genomics,University Medical Centre Ljubljana 49 25 124 6 6 0 0 0 0 210
Genome Diagnostics Laboratory,University Medical Center Utrecht 24 2 17 52 95 0 0 0 0 190
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 103 64 1 0 0 0 0 6 171
Center for Human Genetics,University of Leuven 43 29 91 2 0 0 0 0 0 165
CSER _CC_NCGL, University of Washington 3 19 113 23 1 0 0 0 0 159
GeneReviews 141 0 5 0 7 0 0 0 0 153
Database of Curated Mutations (DoCM) 0 147 0 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 0 146
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 66 43 15 2 11 0 0 0 0 137
Institute of Human Genetics, University of Leipzig Medical Center 24 25 61 8 4 0 0 0 0 121
Myriad Women's Health, Inc. 21 97 0 0 0 0 0 0 0 118
Research and Development, ARUP Laboratories 0 0 0 0 0 0 0 0 110 110
GeneDx 27 3 14 3 61 0 0 0 0 108
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 21 17 16 1 46 0 0 0 0 101
Phosphorus, Inc. 8 6 48 4 34 0 0 0 0 100
Genomic Research Center, Shahid Beheshti University of Medical Sciences 28 17 50 2 2 0 0 0 0 99
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 78 12 0 0 0 0 0 0 90
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 5 3 34 22 25 0 0 0 0 89
Athena Diagnostics Inc 69 3 0 0 11 0 0 0 0 83
Institute of Human Genetics, Klinikum rechts der Isar 51 24 0 0 0 0 0 0 0 75
Klaassen Lab,Charite University Medicine Berlin 6 12 56 0 0 0 0 0 0 74
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 28 9 29 3 0 0 0 0 0 69
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 0 65
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 62 62
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 25 21 15 0 0 0 0 0 0 61
Neuromuscular Research,Maastricht University Medical Centre 48 0 0 0 14 0 0 0 0 61
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 25 8 21 2 0 0 1 0 0 57
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 52 0 0 0 0 0 0 0 53
Knight Diagnostic Laboratories, Oregon Health and Sciences University 15 7 29 0 0 0 0 0 0 51
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 31 9 9 0 0 0 0 50
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 13 21 15 0 1 0 0 0 0 50
Center of Genomic medicine, Geneva,University Hospital of Geneva 28 6 14 0 0 0 0 0 0 48
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 45 0 3 0 0 0 0 0 0 48
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 32 11 3 1 0 0 0 0 0 46
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 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 0 45
SIB Swiss Institute of Bioinformatics 6 17 13 1 2 0 0 0 0 39
Division of Human Genetics,Children's Hospital of Philadelphia 5 7 26 0 0 0 0 0 0 38