ClinVar Miner

Variants studied for congenital structural myopathy

Included ClinVar conditions (176):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
2462 1583 12842 12395 1981 1 4 146 29745

Gene and significance breakdown #

Total genes and gene combinations: 236
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
NEB 580 489 2235 4769 416 0 0 7 7808
FLNC 293 73 1792 1882 181 0 0 7 4145
SDHA 145 66 1263 812 53 0 0 8 2282
NEB, RIF1 211 191 580 1255 112 0 0 4 2138
RYR1 100 100 673 146 76 0 4 19 1068
BAG3 83 7 559 276 47 0 0 1 939
DES 81 39 497 263 28 0 0 4 878
LDB3 10 1 551 273 46 0 0 0 864
KBTBD13 4 2 307 182 78 0 0 1 547
HADHB 60 65 130 227 22 0 0 0 470
KLHL40 27 18 245 137 21 0 0 1 437
GAREM2, HADHA 63 22 87 260 18 0 0 0 433
ACTA1 111 67 150 106 20 0 0 7 419
AMPD1 4 5 264 137 25 0 0 2 413
PRICKLE2 2 0 238 146 21 0 0 0 406
HADHA 52 30 70 245 8 0 0 0 394
TAFAZZIN 45 47 142 141 10 0 0 0 358
MYOT, PKD2L2-DT 7 3 206 124 22 0 0 1 341
TPM3 15 17 179 95 26 0 0 12 315
LMOD3 23 4 175 84 16 0 0 0 298
TNNT1 22 13 112 118 14 0 0 1 265
KLHL41 21 6 129 85 15 0 0 0 252
CHCHD10 4 1 102 69 10 0 0 4 188
MYH7 13 12 98 27 5 0 0 2 157
NDUFA10 0 0 116 12 16 0 0 0 144
POLG 30 23 80 6 4 0 0 6 135
MYPN 9 2 89 14 11 0 0 1 125
CFL2 8 0 68 31 12 0 0 0 118
TYMP 43 32 40 4 8 0 0 0 117
DNM2 10 3 50 10 43 0 0 1 114
AMPD3 1 1 89 8 14 1 0 0 112
RRM2B 3 3 52 12 36 0 0 1 105
TWNK 13 10 51 6 29 0 0 1 103
LDB3, LOC110121486 2 1 59 37 8 0 0 2 100
LOC126806373, NEB 5 3 31 62 3 0 0 0 91
PUS1 5 16 47 19 13 0 0 0 89
SLC25A4 5 1 47 6 26 0 0 0 84
NUBPL 0 1 70 2 10 0 0 0 83
LMOD3, LOC126806710 7 1 32 23 7 0 0 0 69
LOC130067862, SCO2, TYMP 30 11 24 7 6 0 0 0 69
NDUFS1 1 2 47 10 5 0 0 0 65
NCAPH2, SCO2 16 16 29 3 0 0 0 0 61
NDUFAF4 0 0 44 7 7 0 0 0 58
MT-TT 1 0 6 10 36 0 0 0 53
SDHD 6 5 35 1 3 0 0 0 48
FOXRED1 1 0 42 2 2 0 0 0 47
TPM2 8 4 18 6 8 0 0 1 44
YARS2 7 4 25 4 8 0 0 0 44
POLG, POLGARF 5 11 18 6 2 0 0 1 43
MILR1, POLG2 3 1 22 4 13 0 0 0 41
CRYAB 7 1 26 3 6 0 0 3 40
NDUFS2 0 0 35 2 3 0 0 0 40
MYF6 0 0 26 12 3 0 0 0 39
NDUFS4 9 17 10 0 4 0 0 0 39
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 0 0 38
NDUFV1 0 1 34 0 2 0 0 0 37
MSTO1 11 7 21 1 1 0 0 0 35
MT-TH 1 1 12 4 16 0 0 2 35
NDUFAF1 0 0 27 4 4 0 0 0 35
MT-TW 7 1 8 5 13 0 0 1 33
MT-TF 4 2 5 6 15 0 0 2 32
MT-TK 6 2 6 7 10 0 0 6 31
LOC126861897, MHRT, MYH7 0 1 24 2 2 0 0 1 30
MT-TL1 12 4 8 4 6 0 0 6 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
NDUFAF3 1 0 27 0 0 0 0 0 28
FLNC, LOC129999273 2 0 10 13 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
LOC126862902, RYR1 2 2 12 6 6 0 0 0 26
MT-TS2 3 2 7 2 13 0 0 1 25
DNA2 5 3 8 5 3 0 0 1 24
MT-TS1 4 0 6 3 10 0 0 1 23
PNPLA8 5 5 10 1 2 0 0 0 23
DNM1L, YARS2 0 0 5 17 7 0 0 0 22
MT-TI 4 3 5 2 10 0 0 0 22
MT-TL2 3 1 6 2 9 0 0 1 22
MT-TA 3 0 6 4 8 0 0 0 21
PYROXD1 7 2 5 0 8 0 0 0 21
MT-TR 2 3 3 4 8 0 0 0 20
MT-TY 2 0 9 5 4 0 0 0 20
NDUFS3 0 0 20 0 0 0 0 0 20
MT-TE 5 3 2 2 9 0 0 0 19
MT-TP 2 1 9 2 6 0 0 0 19
NDUFS8 0 0 18 0 1 0 0 0 19
MYL2 4 2 10 1 1 0 0 0 18
COX15 5 4 7 0 2 0 0 0 17
DNASE1L1, TAFAZZIN 3 2 6 6 1 0 0 0 17
LOC126861242, NDUFV1 2 2 13 1 0 0 0 0 17
NDUFS7 0 0 15 0 2 0 0 0 17
SELENON 6 6 6 1 0 0 0 1 17
MHRT, MYH7 0 1 12 3 1 0 0 0 16
MT-ND5 7 3 4 0 0 0 0 7 16
SDHB 5 1 7 4 2 0 0 0 16
TOP3A 3 1 3 2 7 0 0 0 16
MT-TN 1 0 5 2 7 0 0 0 15
MT-TM 1 1 5 1 6 0 0 0 14
NDUFV2 0 0 11 1 2 0 0 0 14
CEP63, KY 4 1 5 0 3 0 0 0 13
LOC129391106, RYR1 1 1 7 4 2 0 0 0 13
NDUFA11 0 0 13 0 0 0 0 0 13
NDUFA2, TMCO6 0 0 11 0 2 0 0 0 13
NDUFAF2 0 1 10 2 0 0 0 0 13
SDHAF1 1 0 10 1 1 0 0 0 13
TK2 6 1 2 1 3 0 0 0 13
LOC126861898, MYH7 1 5 6 0 0 0 0 0 12
LOC129993885, NDUFS4 1 2 8 0 1 0 0 0 12
LOC130065089, TNNT1 4 0 5 3 0 0 0 0 12
NDUFS6 0 0 11 0 1 0 0 0 12
LOC130067862, TYMP 6 2 4 1 0 0 0 0 11
MT-CYB 3 3 3 0 0 0 0 2 11
DGUOK 6 0 3 1 1 0 0 0 10
GFER 5 2 3 0 1 0 0 2 10
LOC112552175, NDUFA11 0 0 7 1 2 0 0 0 10
LOC129935473, NDUFS1 0 0 9 0 1 0 0 0 10
LOC130009240, PUS1 1 3 2 2 1 0 0 0 9
LOC130067864, TYMP 7 2 3 0 1 0 0 0 9
​intergenic 8 0 0 0 0 0 0 0 8
LOC132090059, PUS1 1 2 3 2 3 0 0 0 8
SVIL 2 0 4 2 0 0 0 0 8
UNC45B 5 2 2 0 1 0 0 0 8
COA6 3 0 1 1 2 0 0 0 7
DNM2, LOC130063529 0 0 7 0 0 0 0 0 7
HADHA, HADHB 2 0 2 2 1 0 0 0 7
LOC130064279, SDHAF1 2 1 4 0 0 0 0 0 7
MT-ND1 4 3 0 0 0 0 0 3 7
RNASEH1 3 1 2 0 2 0 0 0 7
SCO2, TYMP 0 0 5 3 1 0 0 0 7
LOC130000897, RRM2B 0 0 1 0 5 0 0 0 6
LOC130006217, NDUFV1 0 0 5 0 1 0 0 0 6
LOC130062145, NDUFV2 0 0 6 0 0 0 0 0 6
LOC130064357, RYR1 0 0 5 1 0 0 0 0 6
MTMR14 0 1 4 1 0 0 0 0 6
NCAPH2, SCO2, TYMP 0 0 1 3 4 0 0 0 6
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
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
FOXRED1, LOC130007026 0 0 3 0 1 0 0 0 4
LOC126861897, MYH7 0 0 3 1 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
ACTA1, LOC122152321 0 0 1 0 2 0 0 0 3
DES, DES-LCR 0 0 2 1 0 0 0 0 3
DGUOK, LOC129934096 2 0 1 0 0 0 0 0 3
FDX2, FDX2-ZGLP1 2 1 1 0 1 0 0 0 3
LOC114827850, MYL2 0 1 2 0 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
LOC130065433, NDUFAF5 0 0 3 0 0 0 0 0 3
LOC132089829, MYPN 0 0 2 0 1 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-ND6 1 1 1 0 0 0 0 1 3
SCO2 0 0 1 1 2 0 0 0 3
TTN 1 2 0 0 0 0 0 0 3
ARL5A, CACNB4, NEB 2 0 0 0 0 0 0 0 2
ATP6V1F, FLNC, IRF5, KCP, TNPO3 1 0 1 0 0 0 0 0 2
C22orf15, CHCHD10 0 0 2 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
EDAR, RANBP2 1 1 0 0 0 0 0 0 2
ERCC8, NDUFAF2 1 0 0 0 1 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
LOC130000896, RRM2B 0 1 1 0 0 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
MRPL36, NDUFS6 0 0 2 0 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 0 2
MTM1 1 0 1 0 0 0 0 0 2
MYOT 0 0 2 0 0 0 0 0 2
NDUFAF5 0 0 1 0 0 0 0 1 2
NDUFS8, TCIRG1 0 0 0 1 1 0 0 0 2
RRM1 2 0 0 0 0 0 0 0 2
SLIRP 0 2 0 0 0 0 0 0 2
TMEM126B 1 0 1 0 0 0 0 0 2
ABCB10, ACTA1, AGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, 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
ADGRF3, DRC1, HADHB, OTOF, SELENOI 1 0 0 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
APOB 0 0 1 0 0 0 0 0 1
ASIC4, SPEG 0 0 0 0 0 0 0 1 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
ATP6V1F, FLNC, KCP 1 0 0 0 0 0 0 0 1
BMPR1A, LDB3 0 0 1 0 0 0 0 0 1
CD46 0 0 0 1 0 0 0 0 1
CLN8 0 0 0 0 1 0 0 0 1
COA5 1 0 0 0 0 0 0 0 1
CRX 0 0 0 0 1 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
FARS2, LOC126859565 0 1 0 0 0 0 0 0 1
FBXL4 0 1 0 0 0 0 0 0 1
GAMT, NDUFS7 0 0 0 0 1 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
LOC112081413, NDUFS8 0 0 0 1 0 0 0 0 1
LOC130007527, PYROXD1 0 0 0 0 1 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
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
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
MT-ND2 0 1 0 0 0 0 0 0 1
MT-ND3 0 1 0 0 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 0 0 1
MVK 0 0 0 0 1 0 0 0 1
MYF6, OTOGL, PPP1R12A, PTPRQ 0 0 1 0 0 0 0 0 1
MYO18B 1 0 0 0 0 0 0 0 1
MYOD1 1 0 0 0 0 0 0 0 1
NDUFB11 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
SLC25A42 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 188
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1705 483 8708 11685 1095 0 0 0 23676
Illumina Laboratory Services, Illumina 3 7 2036 400 598 0 0 0 3002
Fulgent Genetics, Fulgent Genetics 92 100 1154 206 55 0 0 0 1607
Natera, Inc. 39 20 1054 174 122 0 0 0 1409
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 50 38 145 90 249 0 0 0 572
Baylor Genetics 85 140 217 0 0 0 0 0 442
OMIM 351 0 11 0 0 1 4 0 367
Counsyl 19 204 121 14 1 0 0 0 359
GeneReviews 137 0 0 0 9 0 0 81 226
Myriad Genetics, Inc. 3 222 1 0 0 0 0 0 226
Genome-Nilou Lab 0 0 9 5 205 0 0 0 219
Revvity Omics, Revvity 13 16 139 3 0 0 0 0 171
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 62 64 1 0 0 0 0 0 127
Mendelics 46 17 5 3 21 0 0 0 92
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 17 20 49 2 1 0 0 0 89
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 16 51 1 1 0 0 0 77
Neuberg Centre For Genomic Medicine, NCGM 13 18 46 0 0 0 0 0 77
MGZ Medical Genetics Center 19 19 32 0 0 0 0 0 70
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 26 16 2 8 0 0 0 59
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 31 17 0 0 0 0 0 58
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 7 30 2 0 0 0 0 47
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 34 1 0 0 0 0 0 44
3billion 12 15 14 1 0 0 0 0 42
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 28 11 2 0 0 0 0 0 41
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 7 21 0 0 0 0 0 39
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 25 8 0 0 0 0 0 0 33
Institute of Human Genetics, University of Leipzig Medical Center 11 6 15 0 1 0 0 0 33
GenomeConnect, ClinGen 0 0 0 0 0 0 0 32 32
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 26 1 0 0 0 0 31
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 29 29
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 12 10 5 0 0 0 0 0 27
Genetics and Molecular Pathology, SA Pathology 7 4 10 0 0 0 0 0 21
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 12 7 0 0 0 0 0 0 19
Harry Perkins Institute Of Medical Research, University Of Western Australia 4 10 4 0 0 0 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 4 12 0 0 0 17
Undiagnosed Diseases Network, NIH 6 8 3 0 0 0 0 0 17
Genetic Services Laboratory, University of Chicago 10 6 0 0 0 0 0 0 16
Centogene AG - the Rare Disease Company 5 3 8 0 0 0 0 0 16
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 10 0 0 0 0 0 0 14
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 2 5 0 0 0 0 0 13
New York Genome Center 1 1 11 0 0 0 0 0 13
Molecular Genetics, Royal Melbourne Hospital 1 1 4 1 6 0 0 0 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 5 2 0 0 0 0 0 13
Pediatric Department, Peking University First Hospital 8 4 0 0 0 0 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 6 4 0 0 0 0 0 12
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 4 3 0 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 1 0 10 0 0 0 0 0 11
Wellcome Centre for Mitochondrial Research, Newcastle University 9 0 1 0 0 0 0 0 10
Center for Genetic Medicine Research, Children's National Medical Center 0 10 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
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 4 1 0 3 2 0 0 0 10
NeuroMeGen, Hospital Clinico Santiago de Compostela 2 7 0 0 0 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 5 0 0 0 0 0 9
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 2 3 3 0 0 0 9
Institute of Human Genetics, University of Goettingen 0 3 5 0 0 0 0 0 8
Daryl Scott Lab, Baylor College of Medicine 2 2 3 0 0 0 0 0 7
SIB Swiss Institute of Bioinformatics 1 4 2 0 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 3 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 1 2 0 0 0 0 0 7
Breda Genetics srl 2 1 4 0 0 0 0 0 7
Athena Diagnostics 0 0 0 0 6 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 4 2 0 0 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 3 2 0 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 1 1 4 0 0 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 4 0 0 0 0 0 6
Clinical Genomics Laboratory, Stanford Medicine 0 1 5 0 0 0 0 0 6
Department of Pathophysiology and Transplantation, University of Milan 4 1 1 0 0 0 0 0 6
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 5 0 0 0 0 0 6
Genomics England Pilot Project, Genomics England 5 1 0 0 0 0 0 0 6
MVZ Medizinische Genetik Mainz 0 0 6 0 0 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 3 0 0 0 0 0 5
Institute of Human Genetics, Cologne University 1 1 3 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 3 1 0 1 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 0 0 0 0 0 5
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 3 1 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 3 0 0 0 0 0 0 5
Pars Genome Lab 0 0 3 0 2 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 5 5
Arcensus 1 2 2 0 0 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 2 1 2 0 0 0 0 0 5
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 4 0 0 0 0 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 3 0 1 0 0 0 0 0 4
Phosphorus, Inc. 0 0 2 2 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 2 0 0 0 0 0 4
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 4 0 0 0 0 0 0 4
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 4 0 0 0 0 0 0 4
Suma Genomics, Suma Genomics 1 1 2 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 2 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 3
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 3 0 0 0 0 0 0 3
Department of Medical Genetics, University Hospital of North Norway 0 0 3 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 1 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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 0 0 0 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 1 2 0 0 0 0 0 0 3
Lifecell International Pvt. Ltd 0 3 0 0 0 0 0 0 3
Pediatric Department, Xiangya Hospital, Central South University 1 2 0 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 3 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
DASA 2 1 0 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 0 3 0 0 0 0 0 3
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 2 0 0 0 0 0 3
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 2 0 0 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 2 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 1 1 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 1 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 0 0 0 2
Biochimie Génétique et moléculaire, CHUGA 1 1 0 0 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 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
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 2
Genomics, Clalit Research Institute, Clalit Health Care 1 1 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 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
Vockley Lab, University of Pittsburgh 2 0 0 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 1 0 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 1 0 0 0 0 0 2
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 2 0 0 0 0 0 0 2
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 1 0 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 1 0 1 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 1
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 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
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 1 1
Blueprint Genetics 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 0 1
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 1 1
Kowloon West Cluster Laboratory Genetic Service, Princess Margaret Hospital 1 0 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
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 Genetics Lab, CHRU Brest 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
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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 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
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
Breakthrough Genomics, Breakthrough 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
Dr.Nikuei Genetic Center 0 1 0 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 0 0 1

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