ClinVar Miner

Variants studied for congenital myopathy

Included ClinVar conditions (317):
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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 not provided total
4234 6661 28989 34347 5121 1 4 270 75044

Gene and significance breakdown #

Total genes and gene combinations: 385
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
TTN 369 3586 6084 12077 1464 0 0 31 21753
NEB 602 562 2240 4963 421 0 0 7 8083
FLNC 339 89 2014 2109 185 0 0 7 4654
COL12A1 64 36 1451 1351 139 0 0 18 2996
COL6A3 94 50 1145 1374 250 0 0 9 2855
SDHA 159 76 1338 895 57 0 0 8 2464
NEB, RIF1 220 234 578 1309 113 0 0 4 2230
COL6A2 156 80 620 794 116 0 0 8 1718
COL6A1 114 60 350 744 284 0 0 6 1511
RYR1 146 205 796 153 98 0 4 19 1284
BAG3 91 9 620 319 47 0 0 1 1052
MYH2, MYHAS 49 19 629 355 33 0 0 0 1050
DES 87 47 547 303 29 0 0 4 982
LDB3 37 4 602 288 46 0 0 0 957
MEGF10 35 19 529 326 46 0 0 0 901
MTM1 178 75 129 265 66 0 0 2 674
BIN1 8 6 339 279 39 0 0 2 633
STIM1 21 13 317 245 29 0 0 3 620
KBTBD13 4 3 370 184 78 0 0 1 610
CACNA1S 17 19 342 155 72 0 0 0 599
CCDC78 1 1 293 232 31 0 0 2 555
SELENON 80 47 219 201 28 0 0 1 533
CNTN1 18 5 216 258 30 0 0 3 527
HADHB 64 70 137 248 22 0 0 0 503
ACTA1 130 84 168 119 21 0 0 7 479
KLHL40 30 20 245 164 21 0 0 1 468
AMPD1 5 5 277 164 27 0 0 2 454
GAREM2, HADHA 66 32 93 269 18 0 0 0 452
PRICKLE2 2 0 261 163 21 0 0 0 446
HADHA 54 46 75 255 8 0 0 0 420
GH-LCR, SCN4A 17 16 300 44 34 0 0 2 407
TAFAZZIN 48 49 160 166 10 0 0 0 406
MYOT, PKD2L2-DT 7 4 229 137 22 0 0 1 378
TPM3 22 18 194 107 26 0 0 12 345
LMOD3 27 4 176 95 16 0 0 0 314
MYH7 34 31 190 54 49 0 0 6 311
TNNT1 24 14 110 139 14 0 0 1 286
LOC101927055, TTN 3 30 63 178 22 0 0 0 276
KLHL41 24 6 129 103 15 0 0 0 273
TOR1AIP1 5 13 109 108 15 0 0 0 245
STAC3 12 4 105 105 9 0 0 5 233
LOC126806422, TTN 1 48 49 134 15 0 0 0 226
LOC126806423, TTN 5 47 50 122 13 0 0 0 220
SCN4A 11 9 163 29 9 0 0 1 219
LOC126806425, TTN 2 46 50 116 21 0 0 0 208
CHCHD10 4 1 112 78 11 0 0 4 207
ORAI1 5 7 107 74 8 0 0 1 199
POLG 42 73 84 6 4 0 0 6 197
LOC126806424, TTN 4 41 49 107 14 0 0 0 196
LOC130008987, ORAI1 3 0 125 57 4 0 0 1 188
LOC126806430, TTN 0 12 47 128 20 0 0 0 187
LOC126862500, MYH2, MYHAS 12 10 101 56 6 0 0 0 179
LOC126806431, TTN 0 16 41 121 11 0 0 0 177
LOC126806421, TTN 1 33 45 93 12 0 0 0 173
LOC126806426, TTN 1 33 36 94 8 0 0 0 163
LOC129935183, TTN 3 14 105 38 7 0 0 0 159
LOC112577517, TOR1AIP1 8 0 92 52 3 0 0 0 153
NDUFA10 0 0 123 14 16 0 0 0 153
LOC126806420, TTN 1 34 38 78 15 0 0 0 150
LOC126806427, TTN 3 29 24 94 13 0 0 0 148
LOC126806433, TTN 2 25 33 91 4 0 0 0 148
LOC126806428, TTN 1 11 30 102 10 0 0 0 138
MYPN 9 5 99 14 11 0 0 1 138
DNM2 15 6 55 10 47 0 0 1 126
RRM2B 4 9 65 13 36 0 0 1 125
CFL2 8 1 70 35 12 0 0 0 124
TYMP 44 37 40 4 8 0 0 0 123
AMPD3 1 1 90 8 14 1 0 0 113
LDB3, LOC110121486 2 1 68 40 8 0 0 2 111
TWNK 15 13 53 6 29 0 0 1 110
ACTN2 2 2 78 12 11 0 0 0 103
MYO18B 12 17 56 4 14 0 0 2 102
NUBPL 1 2 86 4 10 0 0 1 102
LOC124418421, STIM1 0 0 74 24 2 0 0 0 99
LOC126806429, TTN 1 3 27 69 10 0 0 0 99
CLCN1 5 3 27 22 28 0 0 14 98
PUS1 5 23 47 19 13 0 0 0 95
LOC126806373, NEB 5 3 31 63 3 0 0 0 92
SLC25A4 6 1 47 6 26 0 0 0 85
COL12A1, LOC126859712 1 0 45 32 5 0 0 0 83
LOC126862501, MYH2, MYHAS 5 4 37 30 5 0 0 0 78
NDUFS1 1 2 56 12 5 0 0 0 75
LOC129935182, TTN 4 9 49 14 1 0 0 0 74
LMOD3, LOC126806710 7 1 33 24 7 0 0 0 71
LOC130067862, SCO2, TYMP 30 13 25 7 6 0 0 0 71
NCAPH2, SCO2 16 25 31 3 0 0 0 0 69
NDUFAF4 1 0 46 8 7 0 0 0 62
COL6A3, LOC126806573 1 0 20 34 5 0 0 0 60
LOC126861897, MHRT, MYH7 13 5 36 3 5 0 0 3 60
MT-TT 1 0 6 10 36 0 0 0 53
SDHD 7 6 37 1 3 0 0 0 52
FOXRED1 2 1 44 2 2 0 0 0 50
NDUFS2 0 1 43 2 3 0 0 0 49
ASIC4, SPEG 6 5 28 1 7 0 0 1 45
MILR1, POLG2 4 3 23 4 13 0 0 0 45
NDUFS4 9 21 12 1 4 0 0 1 45
YARS2 7 4 26 4 8 0 0 0 45
NDUFV1 0 4 38 0 2 0 0 1 44
TPM2 8 5 18 6 8 0 0 1 44
DNASE1L1, LOC130068869, TAFAZZIN 2 4 20 18 1 0 0 0 43
POLG, POLGARF 3 13 18 6 2 0 0 0 42
COL6A3, LOC122889011 11 8 10 12 1 0 0 0 41
CRYAB 7 1 26 3 6 0 0 3 40
MYF6 0 0 26 12 3 0 0 0 39
SPEG 4 1 30 1 2 0 0 1 39
MSTO1 11 10 22 1 1 0 0 0 36
NDUFAF1 0 0 28 4 4 0 0 0 36
MT-TH 1 1 12 4 16 0 0 2 35
SDHB 9 6 17 4 2 0 0 0 35
LOC126862902, RYR1 4 5 15 6 7 0 0 0 33
LOC129935184, TTN 2 0 21 12 4 0 0 1 33
MT-TW 7 1 8 5 13 0 0 1 33
MHRT, MYH7 4 3 21 5 5 0 0 1 32
MT-TF 4 3 5 6 15 0 0 2 32
MT-TK 6 2 6 7 10 0 0 6 31
FHL1 10 4 14 1 1 0 0 0 30
FLNC, LOC129999273 2 0 12 14 2 0 0 0 30
MT-TL1 12 4 8 4 6 0 0 6 30
NDUFAF3 1 0 29 0 0 0 0 0 30
MT-TC 1 0 6 4 19 0 0 0 29
MT-TG 0 1 11 5 11 0 0 0 28
MT-TV 4 3 12 6 5 0 0 2 28
COX15 5 17 7 0 2 0 0 0 27
MT-TD 0 1 9 6 11 0 0 0 27
MT-TQ 1 1 4 4 17 0 0 1 27
DNA2 5 4 9 6 3 0 0 1 26
MT-TS2 3 2 7 2 13 0 0 1 25
NDUFS3 0 1 24 0 0 0 0 0 25
MT-TI 5 3 5 2 10 0 0 0 23
MT-TS1 4 0 6 3 10 0 0 1 23
PNPLA8 5 5 10 1 2 0 0 0 23
TK2 11 6 3 1 3 0 0 0 23
DNM1L, YARS2 0 0 5 17 7 0 0 0 22
MT-TL2 3 1 6 2 9 0 0 1 22
NDUFS6 0 0 16 5 1 0 0 0 22
LOC129935185, TTN 0 1 15 5 1 0 0 0 21
MT-TA 3 0 6 4 8 0 0 0 21
MT-TR 3 3 3 4 8 0 0 0 21
MT-TY 3 0 9 5 4 0 0 0 21
PYROXD1 7 2 5 0 8 0 0 0 21
LOC126861898, MYH7 2 6 10 3 2 0 0 0 20
MYL2 4 2 12 1 1 0 0 0 20
NDUFAF5 0 3 8 7 2 0 0 1 20
NDUFS8 0 0 19 0 1 0 0 0 20
LOC126861242, NDUFV1 3 2 14 1 0 0 0 0 19
MT-TE 5 3 2 2 9 0 0 0 19
MT-TP 2 1 9 2 6 0 0 0 19
MYBPC1 4 1 4 2 9 0 0 0 19
NDUFS7 0 0 17 0 2 0 0 0 19
DGUOK 9 5 3 1 1 0 0 0 18
DNASE1L1, TAFAZZIN 3 2 6 6 1 0 0 0 17
NDUFAF2 0 1 14 2 0 0 0 0 17
RYR3 4 0 14 0 0 0 0 0 17
TOP3A 3 2 3 2 7 0 0 0 17
MT-CYB 3 3 3 0 5 0 0 2 16
MT-ND5 7 3 4 0 0 0 0 7 16
LOC126806432, TTN 0 0 12 2 1 0 0 0 15
MT-TN 1 0 5 2 7 0 0 0 15
NDUFV2 0 0 11 2 2 0 0 0 15
BIN1, LOC122819150 0 0 13 1 0 0 0 0 14
LOC130065089, TNNT1 4 0 5 5 0 0 0 0 14
MT-TM 1 1 5 1 6 0 0 0 14
MYH2 1 1 12 0 0 0 0 0 14
NDUFA11 0 0 14 0 0 0 0 0 14
ACAD9 5 7 1 0 0 0 0 0 13
CEP63, KY 4 1 5 0 3 0 0 0 13
LOC129391106, RYR1 1 1 7 4 2 0 0 0 13
LOC129993885, NDUFS4 1 3 8 0 1 0 0 0 13
NDUFA2, TMCO6 0 0 11 0 2 0 0 0 13
SDHAF1 1 0 10 1 1 0 0 0 13
LOC112552175, NDUFA11 0 0 8 1 2 0 0 0 11
LOC129935186, TTN 0 2 3 7 1 0 0 0 11
LOC130067862, TYMP 6 3 4 1 0 0 0 0 11
LOC130067864, TYMP 7 4 3 0 1 0 0 0 11
CCDC174 0 0 5 1 4 0 0 0 10
GFER 5 2 3 0 1 0 0 2 10
LOC129935473, NDUFS1 0 0 9 0 1 0 0 0 10
COL6A2, FTCD 1 0 1 1 7 0 0 0 9
LOC130009240, PUS1 1 3 2 2 1 0 0 0 9
LOC130062145, NDUFV2 0 0 9 0 0 0 0 0 9
LOC130065433, NDUFAF5 0 0 6 3 0 0 0 0 9
MAP3K20 3 0 0 1 5 0 0 0 9
PAX7 4 1 4 0 1 0 0 0 9
​intergenic 8 0 0 0 0 0 0 0 8
COA6 3 1 1 1 2 0 0 0 8
COL12A1, LOC129996730 1 1 4 2 0 0 0 0 8
DNM2, LOC130063529 0 0 7 0 1 0 0 0 8
FXR1 4 0 3 1 0 0 0 0 8
HSPB8 8 0 0 0 0 0 0 0 8
LOC132090059, PUS1 1 2 3 2 3 0 0 0 8
MT-ND1 4 4 0 0 0 0 0 3 8
SCO2, TYMP 0 1 5 3 1 0 0 0 8
SVIL 2 0 4 2 0 0 0 0 8
UNC45B 5 2 2 0 1 0 0 0 8
GAMT, NDUFS7 0 0 0 7 1 0 0 0 7
HADHA, HADHB 2 0 2 2 1 0 0 0 7
HMGCS1 7 0 0 0 0 0 0 0 7
LOC126861897, MYH7 0 1 5 1 1 0 0 0 7
LOC130000896, RRM2B 0 2 5 0 0 0 0 0 7
LOC130064279, SDHAF1 2 1 4 0 0 0 0 0 7
LOC130064357, RYR1 0 0 6 1 1 0 0 0 7
RNASEH1 3 1 2 0 2 0 0 0 7
HACD1 6 1 0 0 0 0 0 0 6
LOC130000897, RRM2B 0 0 1 0 5 0 0 0 6
LOC130006217, NDUFV1 0 0 5 0 1 0 0 0 6
MTMR14 0 1 4 1 0 0 0 0 6
MYOD1 3 2 1 0 0 0 0 0 6
NCAPH2, SCO2, TYMP 0 0 1 3 4 0 0 0 6
ERCC8, NDUFAF2 1 0 1 1 2 0 0 0 5
FANCI, POLG 0 0 2 0 3 0 0 0 5
GFER, LOC130058203 2 2 1 1 0 0 0 0 5
LOC129993501, SLC25A4 0 0 2 0 3 0 0 0 5
LOC130005165, STIM1 0 0 3 2 0 0 0 0 5
LOC130064281, SDHAF1 0 0 3 1 1 0 0 0 5
TIMMDC1 0 1 4 0 0 0 0 0 5
TNNI3, TNNT1 1 0 1 2 3 0 0 0 5
DGUOK, LOC129934096 2 1 1 0 0 0 0 0 4
DNAJB4 4 0 0 0 0 0 0 0 4
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 2 2 0 0 0 0 0 4
FOXRED1, LOC130007026 0 0 3 0 1 0 0 0 4
JPH1 4 3 0 0 0 0 0 0 4
LOC114827850, MYL2 0 2 2 0 0 0 0 0 4
LOC129931761, NDUFS2 0 0 3 0 1 0 0 0 4
LOC130067866, TYMP 0 0 4 0 0 0 0 0 4
ACAD9, CFAP92 1 2 0 0 0 0 0 0 3
ACTA1, LOC122152321 0 0 1 0 2 0 0 0 3
COL6A1, COL6A2, COL6A2-DT, LOC121853033, LOC130066866 1 0 2 0 0 0 0 0 3
CYB5R3 1 1 1 0 0 0 0 0 3
DES, DES-LCR 0 0 2 1 0 0 0 0 3
FDX2, FDX2-ZGLP1 2 1 1 0 1 0 0 0 3
LOC112081413, NDUFS8 0 0 2 1 0 0 0 0 3
LOC126861339, SDHD 0 0 2 0 1 0 0 0 3
LOC129996857, NDUFAF4 0 0 3 0 0 0 0 0 3
LOC130064280, SDHAF1 3 0 0 0 0 0 0 0 3
LOC132089829, MYPN 0 0 2 0 1 0 0 0 3
MAMLD1, MTM1 2 0 1 0 0 0 0 0 3
MRPL36, NDUFS6 0 0 2 1 0 0 0 0 3
MT-CO1 0 2 0 0 0 0 0 1 3
MT-CO3 1 0 1 0 0 0 0 1 3
MT-ND2 2 1 0 0 0 0 0 0 3
MT-ND6 1 1 1 0 0 0 0 1 3
MYL1 2 0 1 0 1 0 0 0 3
SCO2 0 0 1 1 2 0 0 0 3
TMEM126B 2 0 1 0 0 0 0 0 3
ACKR3, COL6A3, COPS8 1 0 1 0 0 0 0 0 2
ARL5A, CACNB4, NEB 2 0 0 0 0 0 0 0 2
ASCC3 0 1 1 0 0 0 0 0 2
ATP6V1F, FLNC, IRF5, KCP, TNPO3 1 0 1 0 0 0 0 0 2
BIN1, LOC112806045 0 0 2 0 0 0 0 0 2
C22orf15, CHCHD10 0 0 2 0 0 0 0 0 2
CASQ1 2 0 0 0 0 0 0 0 2
CEP63, KY, LOC123038188 0 1 0 0 1 0 0 0 2
CFL2, LOC130055474, LOC130055475 1 0 1 0 0 0 0 0 2
CHRNA1 2 0 0 0 0 0 0 0 2
CLCN1, LOC123956257 0 0 2 0 0 0 0 0 2
EDAR, RANBP2 1 1 0 0 0 0 0 0 2
FDX2, FDX2-ZGLP1, LOC130063486 0 0 1 0 1 0 0 0 2
LARS2 0 1 1 0 0 0 0 0 2
LDB3, LOC110121486, LOC130004243, LOC132089876 0 0 2 0 0 0 0 0 2
LOC129936729, NDUFAF3 0 0 2 0 0 0 0 0 2
LOC129936730, NDUFAF3 0 0 2 0 0 0 0 0 2
LOC129936731, NDUFAF3 0 0 2 0 0 0 0 0 2
LOC130007527, PYROXD1 1 0 0 0 1 0 0 0 2
LOC130067861, SCO2 0 0 2 0 0 0 0 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 0 2
MT-ND3 0 2 0 0 0 0 0 0 2
MT-ND4 2 0 0 0 0 0 0 0 2
MVK 0 0 1 0 1 0 0 0 2
MYO15B 0 0 2 0 0 0 0 0 2
MYOT 0 0 2 0 0 0 0 0 2
NDUFS8, TCIRG1 0 0 1 2 1 0 0 0 2
PGAP2, RHOG, STIM1 0 0 2 0 0 0 0 0 2
RRM1 2 1 0 0 0 0 0 0 2
SLC25A10 0 2 0 0 0 0 0 0 2
SLC25A42 0 1 0 0 0 0 0 1 2
SLIRP 0 2 0 0 0 0 0 0 2
TNNC2 2 0 0 0 0 0 0 0 2
TRIP4 2 0 0 0 0 0 0 0 2
ABCB10, ACTA1, AGT, ARV1, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, FSAF1, GALNT2, GNPAT, NUP133, PGBD5, SPRTN, TAF5L, TRIM67, TSNAX, TTC13, URB2 0 0 1 0 0 0 0 0 1
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
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 0 1
ACKR3, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 0 1
ACKR3, COL6A3, COPS8, COPS8-DT, LOC110121230, LOC112840913, LOC122889010, LOC122889011, LOC126806571, LOC126806572, LOC126806573, LOC129935916, LOC129935917, LOC93463 0 0 1 0 0 0 0 0 1
ADGRF3, DRC1, HADHB, OTOF, SELENOI 1 0 0 0 0 0 0 0 1
ALG14 1 0 0 0 0 0 0 0 1
ALG14, LOC129930989 1 0 0 0 0 0 0 0 1
AMACR, C1QTNF3-AMACR 0 0 1 0 0 0 0 0 1
ANKDD1A, APH1B, CA12, CIAO2A, CILP, CLPX, CSNK1G1, DAPK2, DENND4A, DPP8, FBXL22, HACD3, HERC1, IGDCC3, IGDCC4, INTS14, KBTBD13, LACTB, MEGF11, MTFMT, OAZ2, PARP16, PCLAF, PDCD7, PIF1, PLEKHO2, PPIB, RAB11A, RAB8B, RASL12, RBPMS2, RNU5A-1, RPS27L, SLC24A1, SLC51B, SNX1, SNX22, SPG21, TRIP4, UBAP1L, USP3, ZNF609 0 1 0 0 0 0 0 0 1
ANTXR2 0 0 0 0 1 0 0 0 1
AP4S1, ARHGAP5, DTD2, GPR33, HEATR5A, HEATR5A-DT, HECTD1, LINC02313, LOC112267854, LOC121838588, LOC124995355, LOC124995356, LOC124995359, LOC126861911, LOC126861912, LOC126861913, LOC126861914, LOC129390617, LOC129390618, LOC129390619, LOC130055443, LOC130055444, LOC130055445, LOC130055446, LOC130055447, LOC130055448, LOC130055449, LOC130055450, LOC130055451, LOC130055452, LOC130055453, LOC130055454, MIR624, NUBPL, NUBPL-DT, STRN3 0 0 1 0 0 0 0 0 1
APOB 0 0 1 0 0 0 0 0 1
ASCC1 1 0 0 0 0 0 0 0 1
ATP13A4 0 0 0 0 1 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 1
ATP6V0A4 0 0 0 0 1 0 0 0 1
ATP6V1F, FLNC, KCP 1 0 0 0 0 0 0 0 1
BIN1, CYP27C1, ERCC3, GPR17, IWS1, LIMS2, MAP3K2, MYO7B, PROC 0 0 1 0 0 0 0 0 1
BIN1, LOC112806045, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714 0 0 1 0 0 0 0 0 1
BMPR1A, LDB3 0 0 1 0 0 0 0 0 1
CAV3, OXTR 0 1 0 0 0 0 0 0 1
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 0 0 1
CCDC174, LOC126806614 1 0 0 0 0 0 0 0 1
CD46 0 0 0 1 0 0 0 0 1
CD99L2, GPR50, HMGB3, MAMLD1, MTM1, MTMR1, VMA21 1 0 0 0 0 0 0 0 1
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 0 0 0 1
CHRND 1 0 0 0 0 0 0 0 1
CLCN5 0 0 0 0 1 0 0 0 1
CLN8 0 0 0 0 1 0 0 0 1
COA5 1 0 0 0 0 0 0 0 1
COL12A1, COX7A2, FILIP1, IMPG1, MYO6, SENP6, TMEM30A 0 0 1 0 0 0 0 0 1
COL6A2, LOC121853033 0 0 1 0 0 0 0 0 1
COL6A3, MLPH 0 0 1 0 0 0 0 0 1
CRX 0 0 0 0 1 0 0 0 1
CYLD, NOD2 0 0 1 0 0 0 0 0 1
CYP1B1 0 0 1 0 0 0 0 0 1
DAP3, GON4L, LOC129931572, LOC129931573, MSTO1, SCARNA26A, YY1AP1 1 0 0 0 0 0 0 0 1
DES, LOC110121267 1 0 0 0 0 0 0 0 1
DES, SPEG 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
DPAGT1 1 0 0 0 0 0 0 0 1
DSP 0 1 0 0 0 0 0 0 1
EXOSC3 1 0 0 0 0 0 0 0 1
FARS2, LOC126859565 0 1 0 0 0 0 0 0 1
FBXL4 0 1 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 1
FOXP3 1 0 0 0 0 0 0 0 1
GAS7, GLP2R, MYH1, MYH13, MYH2, MYH4, MYH8, RCVRN 1 0 0 0 0 0 0 0 1
GGPS1 0 1 0 0 0 0 0 0 1
HORMAD2, MTMR3 0 0 1 0 0 0 0 0 1
HPD, MORN3, ORAI1, RHOF, SETD1B, TMEM120B 1 0 0 0 0 0 0 0 1
INSR 0 0 0 1 0 0 0 0 1
KBTBD13, MTFMT, RASL12, SLC51B, SPG21 0 0 1 0 0 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 0 0 1
LDLRAP1, MAN1C1, SELENON 1 0 0 0 0 0 0 0 1
LMNA 0 1 0 0 0 0 0 0 1
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN 0 0 1 0 0 0 0 0 1
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1 1 0 0 0 0 0 0 0 1
LOC112577517, LOC129932003, TOR1AIP1 1 0 0 0 0 0 0 0 1
LOC112577517, TOR1AIP1, TOR1AIP2 1 0 0 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
LOC120893173, LOC122149342, LOC122149343, LOC122149344, LOC126805978, LOC129388729, PPP1R12B, SYT2 0 0 1 0 0 0 0 0 1
LOC125371495, NDUFA13 1 0 0 0 0 0 0 0 1
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PLEKHA3, TTN 0 1 0 0 0 0 0 0 1
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN 0 1 0 0 0 0 0 0 1
LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC129388955, TTN 1 0 0 0 0 0 0 0 1
LOC126806425, LOC126806426, LOC126806427, TTN 0 0 1 0 0 0 0 0 1
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN 0 0 1 0 0 0 0 0 1
LOC126862500, MYH1, MYH2, MYHAS 0 0 1 0 0 0 0 0 1
LOC129388955, TTN 0 0 1 0 0 0 0 0 1
LOC129994721, LOC129994722, MYOT, PKD2L2, PKD2L2-DT 0 1 0 0 0 0 0 0 1
LOC130064350, RYR1 0 0 1 0 0 0 0 0 1
LOC130065089, TNNI3, TNNT1 1 0 0 0 0 0 0 0 1
LOC130068621, NDUFA1 0 0 1 0 0 0 0 1 1
LOC130068796, MTM1 1 0 0 0 0 0 0 0 1
LPA 0 0 0 1 0 0 0 0 1
MEFV 0 0 0 0 1 0 0 0 1
MFF 0 1 0 0 0 0 0 0 1
MIR208B, MYH7 0 0 1 0 0 0 0 0 1
MIR6766, POLG 0 0 0 0 1 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 1 0 0 0 0 0 1 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 0 0 0 0 0 0 0 1 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 0 1
MT-CO2 0 1 0 0 0 0 0 0 1
MT-ND1, MT-TL1 1 0 0 0 0 0 0 1 1
MYF6, OTOGL, PPP1R12A, PTPRQ 0 0 1 0 0 0 0 0 1
MYH2, MYH3, SCO1 0 0 1 0 0 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 0 0 1
NDUFAF7 0 0 0 0 0 0 0 1 1
NDUFB10 0 1 0 0 0 0 0 0 1
NDUFB11 1 0 0 0 0 0 0 0 1
NDUFB3 0 1 0 0 0 0 0 0 1
NF1 0 0 0 0 1 0 0 0 1
OPA1 0 1 0 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 0 1
POLRMT 0 0 1 0 0 0 0 0 1
PPT1 0 0 0 0 1 0 0 0 1
RANBP2 0 0 1 0 0 0 0 0 1
SRPK3 1 0 0 0 0 0 0 0 1
SURF1 1 0 0 0 0 0 0 0 1
TNNT3 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 264
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2791 4238 20687 32705 3180 0 0 0 63596
Illumina Laboratory Services, Illumina 10 25 4195 1038 1980 0 0 0 5745
Fulgent Genetics, Fulgent Genetics 213 539 3216 488 78 0 0 0 4532
Natera, Inc. 40 22 1085 212 129 0 0 0 1488
Genome-Nilou Lab 0 2 157 164 1055 0 0 0 1378
Baylor Genetics 125 180 445 0 0 0 0 0 748
OMIM 638 0 13 0 0 1 4 1 657
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 50 38 145 90 249 0 0 0 572
Revvity Omics, Revvity 26 31 425 9 0 0 0 0 491
Counsyl 19 204 122 14 1 0 0 0 360
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 13 268 19 0 0 0 0 0 300
GeneReviews 147 0 1 0 9 0 0 122 278
Myriad Genetics, Inc. 3 245 1 0 0 0 0 0 249
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 126 120 1 0 0 0 0 0 247
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 60 71 102 5 1 0 0 0 239
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 49 84 70 4 12 0 0 0 219
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 40 44 122 2 1 0 0 0 209
Neuberg Centre For Genomic Medicine, NCGM 24 45 118 1 0 0 0 0 188
Genetic Services Laboratory, University of Chicago 138 26 13 0 0 0 0 0 177
Mendelics 66 23 16 7 45 0 0 0 157
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 70 60 9 0 0 0 0 0 138
Juno Genomics, Hangzhou Juno Genomics, Inc 19 94 21 0 0 0 0 0 134
Centre for Mendelian Genomics, University Medical Centre Ljubljana 13 22 83 7 3 0 0 0 127
New York Genome Center 3 11 107 0 0 0 0 0 121
MGZ Medical Genetics Center 25 36 56 0 0 0 0 0 117
Genomic Research Center, Shahid Beheshti University of Medical Sciences 14 17 61 3 1 0 0 0 96
3billion, Medical Genetics 40 30 23 2 0 0 0 0 95
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 30 14 12 8 22 0 0 0 86
Institute of Human Genetics, University of Leipzig Medical Center 23 21 39 0 2 0 0 0 85
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 74 74
GenomeConnect, ClinGen 0 0 0 0 0 0 0 66 66
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 43 3 0 0 0 0 0 61
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 0 0 0 58
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 40 15 0 0 0 0 0 0 55
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 22 24 8 0 0 0 0 0 54
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 4 42 3 0 0 0 0 53
Molecular Genetics, Royal Melbourne Hospital 7 2 23 10 9 0 0 0 51
Centogene AG - the Rare Disease Company 8 8 21 0 0 0 0 0 37
Genetics and Molecular Pathology, SA Pathology 7 10 19 0 0 0 0 0 36
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 22 14 0 0 0 0 0 0 36
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 8 7 21 0 0 0 0 0 36
Pediatric Department, Peking University First Hospital 12 17 3 0 0 0 0 0 32
Harry Perkins Institute Of Medical Research, University Of Western Australia 12 15 4 0 0 0 0 0 31
Clinical Genomics Laboratory, Washington University in St. Louis 2 9 17 0 0 0 0 0 28
Undiagnosed Diseases Network, NIH 11 12 4 1 0 0 0 0 28
deCODE genetics, Amgen 2 24 0 0 0 0 0 0 26
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 9 13 0 0 0 0 0 24
KTest Genetics, KTest 18 6 0 0 0 0 0 0 24
Solve-RD Consortium 2 22 0 0 0 0 0 0 24
KardioGenetik, Herz- und Diabeteszentrum NRW 0 17 7 0 0 0 0 0 24
NeuroMeGen, Hospital Clinico Santiago de Compostela 2 20 0 0 0 0 0 0 22
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 7 6 0 0 0 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 4 4 12 0 0 0 21
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 19 0 0 0 0 0 21
MVZ Medizinische Genetik Mainz 1 8 12 0 0 0 0 0 21
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 7 13 0 0 0 0 0 0 20
Mayo Clinic Laboratories, Mayo Clinic 1 0 19 0 0 0 0 0 20
Phosphorus, Inc. 0 0 15 3 2 0 0 0 20
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 6 7 7 0 0 0 0 0 20
Clinical Genomics Laboratory, Stanford Medicine 0 6 14 0 0 0 0 0 20
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 3 8 0 0 0 0 0 19
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 4 5 10 0 0 0 0 0 19
Institute of Human Genetics, Cologne University 6 7 4 1 0 0 0 0 18
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 9 5 3 0 0 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 11 0 0 0 16
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 5 2 3 4 0 0 0 16
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 13 0 2 0 0 0 0 0 15
Center for Genetic Medicine Research, Children's National Medical Center 0 15 0 0 0 0 0 0 15
Neurogenetics Laboratory, Royal Perth Hospital 15 0 0 0 0 0 0 0 15
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 15 0 0 0 0 0 0 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 9 4 0 0 0 0 0 15
Suma Genomics 6 3 6 0 0 0 0 0 15
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 5 8 0 0 0 0 0 15
Genomics England Pilot Project, Genomics England 5 10 0 0 0 0 0 0 15
Institute of Immunology and Genetics Kaiserslautern 7 3 5 0 0 0 0 0 15
Institute of Human Genetics, University of Goettingen 0 4 10 0 0 0 0 0 14
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 2 6 0 0 0 0 0 14
Institute of Human Genetics, University of Wuerzburg 0 11 3 0 0 0 0 0 14
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 11 2 0 0 0 0 0 14
Breda Genetics srl 2 1 11 0 0 0 0 0 14
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 5 5 3 0 0 0 0 0 13
SIB Swiss Institute of Bioinformatics 1 9 3 0 0 0 0 0 13
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 1 9 0 0 0 0 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 10 0 0 0 0 0 0 12
Johns Hopkins Genomics, Johns Hopkins University 2 4 6 0 0 0 0 0 12
CSER _CC_NCGL, University of Washington 0 0 6 5 0 0 0 0 11
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 7 0 0 0 0 0 11
Daryl Scott Lab, Baylor College of Medicine 2 2 7 0 0 0 0 0 11
Department of Human Genetics, Hannover Medical School 0 3 8 0 0 0 0 0 11
Wellcome Centre for Mitochondrial Research, Newcastle University 9 0 1 0 0 0 0 0 10
Division of Human Genetics, Children's Hospital of Philadelphia 2 3 5 0 0 0 0 0 10
Center of Genomic medicine, Geneva, University Hospital of Geneva 5 3 2 0 0 0 0 0 10
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 8 0 0 0 0 0 0 10
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 3 3 0 0 0 0 0 10
Center of Excellence for Medical Genomics, Chulalongkorn University 3 3 4 0 0 0 0 0 10
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 5 0 0 0 0 0 0 9
Genomic Medicine Lab, University of California San Francisco 2 4 3 0 0 0 0 0 9
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 4 5 0 0 0 0 0 0 9
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 4 3 0 1 0 0 0 8
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 5 3 0 0 0 0 0 0 8
Arcensus 1 3 4 0 0 0 0 0 8
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 4 2 1 0 0 0 0 0 7
Institute of Human Genetics, Heidelberg University 1 6 0 0 0 0 0 0 7
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 7 0 0 0 0 0 0 7
Department of Pathophysiology and Transplantation, University of Milan 5 1 1 0 0 0 0 0 7
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 4 0 0 0 0 0 7
DASA 4 3 0 0 0 0 0 0 7
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 7 7
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 3 4 0 0 0 0 0 0 7
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 4 2 0 0 0 0 0 6
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 4 0 0 0 0 0 6
Pars Genome Lab 1 0 3 0 2 0 0 0 6
Lifecell International Pvt. Ltd 2 4 0 0 0 0 0 0 6
Human Genetics Bochum, Ruhr University Bochum 0 2 4 0 0 0 0 0 6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 4 1 0 0 0 0 0 5
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 4 1 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 0 5 0 0 0 0 0 0 5
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 4 1 0 0 0 0 5
Hadassah Hebrew University Medical Center 0 5 0 0 0 0 0 0 5
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 5 0 0 0 0 0 0 5
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 3 2 0 0 0 0 0 5
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 2 1 0 2 0 0 0 5
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 3 1 0 0 0 0 0 5
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 2 3 0 0 0 0 0 5
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 1 2 0 0 0 0 5
Athena Diagnostics 0 0 0 0 4 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 1 2 0 0 0 4
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 4 0 0 0 0 0 4
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 2 0 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 4 0 0 0 0 0 4
Clinical Genetics Laboratory, Region Ostergotland 1 3 0 0 0 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 2 0 0 0 0 0 4
Kids Research, The Children's Hospital at Westmead 2 1 1 0 0 0 0 0 4
Biochemistry Laboratory of CDMU, Chengde Medical University 2 2 0 0 0 0 0 0 4
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 1 1 0 0 0 0 0 4
Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University 3 1 0 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 0 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 2 0 0 0 0 0 3
Department of Medical Genetics, University Hospital of North Norway 0 0 3 0 0 0 0 0 3
Institute for Genomic Medicine, Nationwide Children's Hospital 0 3 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 0 0 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 2 0 0 0 0 0 3
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 3 0 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 0 0 0 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 3 0 0 0 0 0 0 0 3
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 3 0 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 0 0 0 0 0 3
Pediatric Department, Xiangya Hospital, Central South University 1 2 0 0 0 0 0 0 3
Genomics, Clalit Research Institute, Clalit Health Care 1 2 0 0 0 0 0 0 3
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 3 0 0 0 0 0 0 0 3
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 2 0 0 0 0 0 3
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 2 0 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 1 2 0 0 0 0 0 0 3
DECIPHERD-UDD, Universidad del Desarrollo 1 0 2 0 0 0 0 0 3
Rare Disease Medical Center, Peking University 3 0 0 0 0 0 0 0 3
Hehr Laboratory, Center for Human Genetics Regensburg 1 1 0 0 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 2 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 2 0 0 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 0 0 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 1 0 0 0 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 0 0 2
Biochimie Génétique et moléculaire, CHUGA 1 1 0 0 0 0 0 0 2
Computational Biology Unit, University of Bari 0 2 0 0 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 0 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 0 0 0 0 0 0 2
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 1 1 0 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 1 0 0 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 2 0 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 2 0 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 0 2
Department of Toxicogenomics, Maastricht University 0 2 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 Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 0 0 2
Vockley Lab, University of Pittsburgh 2 0 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 0 0 0 2
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 2 0 0 0 0 0 0 2
Neurogenetics, Research Centre for Medical Genetics 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
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 2 0 0 0 0 0 0 2
Dr.Nikuei Genetic Center 0 1 0 0 1 0 0 0 2
Laboratorio Biología Molecular, Sanatorio Americano 0 2 0 0 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 1 0 0 0 0 0 2
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 1
CGC Genetics, Unilabs 0 0 1 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 1 0 0 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 1 1
Blueprint Genetics 1 0 0 0 0 0 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 1 0 0 0 0 0 0 0 1
Simons Lab, The University of Queensland 0 1 0 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 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
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 1 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 1
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School 1 0 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 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
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 1
Dr. Alfred Bastarche Laboratory, Dr. Georges L. Dumont University Hospital Centre 0 1 0 0 0 0 0 0 1
Research Center for Molecular Medicine, Hamadan University of medical science 1 0 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 1 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
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 0 1 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 1 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 1
Kowloon West Cluster Laboratory Genetic Service, Princess Margaret Hospital 1 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 0 0 1
Genetics, INEBIR 1 0 0 0 0 0 0 0 1
Rare Disease Group, University of Exeter 0 1 0 0 0 0 0 0 1
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 0 0 1 0 0 0 0 0 1
Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Care Hospital 0 0 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 0 0 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 0 1 0 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 0 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 0 1
Pediatrics Department, Azienda Ospedaliero-Universitaria Policlinico San Marco 0 1 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 0 0 1
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 1 0 0 0 0 0 0 0 1
Department of Cardiology, The Fifth Hospital of Shanxi Medical University 0 0 1 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 0 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 1 0 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 0 0 1
Children's Medical Center, Molecular Pathology and Cytogenetics Lab, Tehran University of Medical Sciences 0 0 1 0 0 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 0 0 0 1
Laboratorio de Investigaciones Aplicadas a Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia 1 0 0 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 0 0 1
Inheritance Genetic Center 0 1 0 0 0 0 0 0 1
Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 0 0 1
Genetics Department, Catlab 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
Genomeconnect - The Bow Foundation (GNAO1) 0 0 0 0 0 0 0 1 1

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