ClinVar Miner

Variants studied for inherited aplastic anemia

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 association risk factor not provided total
3407 1820 13706 10139 1058 1 1 72 28534

Gene and significance breakdown #

Total genes and gene combinations: 153
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
BRIP1 464 206 2433 1265 64 0 0 4 4312
FANCA 759 385 1463 1799 119 0 0 9 4104
SLX4 106 49 1386 731 96 0 0 3 2259
FANCM 150 26 1325 624 45 0 0 0 2165
FANCI 155 177 900 883 65 0 0 2 2053
RAD51C 168 70 803 413 18 0 0 2 1436
FANCD2, LOC107303338 107 117 497 509 60 0 0 1 1194
FANCG 125 103 333 469 15 0 0 5 972
AOPEP, FANCC 95 106 432 379 29 0 0 3 948
FANCA, ZNF276 126 56 301 291 28 0 0 0 719
FANCL 75 76 265 292 26 0 0 0 689
FANCB 26 6 318 279 71 0 0 0 657
FANCE 39 43 284 263 24 0 0 0 606
ERCC4 31 18 336 215 27 0 0 1 604
BRCA2 148 21 266 87 36 0 0 23 565
FANCD2, FANCD2OS 40 47 222 219 14 0 0 0 515
FANCC 87 73 175 189 11 0 0 6 488
FANCF 36 27 261 96 21 0 0 0 420
PALB2 58 24 224 49 8 0 0 10 362
GATA1 37 2 138 80 43 0 0 0 300
DIPK1A, RPL5 49 16 113 85 17 1 1 0 262
RPS19 54 17 79 72 17 0 0 0 229
BRCA1 87 11 65 24 18 0 0 1 203
RPS7 7 6 83 77 13 0 0 0 180
RPL11 32 9 58 62 12 0 0 0 158
RPS26 23 9 45 65 7 0 0 0 143
RPS10, RPS10-NUDT3 6 1 65 60 16 0 0 0 140
FANCE, LOC129996245 8 13 78 45 2 0 0 0 137
FANCA, LOC112486223 19 12 57 52 5 0 0 0 129
RPS24 8 3 54 60 10 0 0 0 128
IQCG, RPL35A 9 6 62 45 7 0 0 0 121
LOC129390903, RAD51C 20 2 70 31 0 0 0 1 121
FANCD2 30 10 34 26 3 0 0 0 98
FANCA, LOC130059837 18 16 47 31 1 0 0 0 95
SRP72 2 0 46 4 31 0 0 0 80
RPL26 2 2 35 33 6 0 0 1 76
FANCI, POLG 5 1 33 28 12 0 0 0 74
FANCA, LOC132090450 11 9 14 33 2 0 0 0 62
ERCC4, LOC130058543 4 0 39 17 1 0 0 0 61
FANCF, LOC130005443 0 2 34 11 2 0 0 0 47
FANCL, VRK2 3 2 23 16 2 0 0 0 41
BRCA1, LOC126862571 12 0 17 2 2 0 0 0 33
XRCC2 0 5 24 3 4 0 0 0 33
RPL5 5 2 10 11 10 0 0 0 31
LOC130061310, RAD51C 2 2 9 19 0 0 0 0 30
ERCC6L2 3 5 15 2 2 0 0 0 27
RPS17 6 1 11 7 0 0 0 0 25
​intergenic 24 0 0 0 0 0 0 0 24
LOC129929673, RPL11 2 0 5 13 4 0 0 0 24
LOC130004144, RPS24 3 0 6 12 4 0 0 0 24
FANCM, LOC130055524 1 0 12 9 0 0 0 0 21
FANCA, LOC132090445, ZNF276 4 2 3 12 0 0 0 0 19
FANCF, LOC130005444 0 1 10 4 1 0 0 0 16
NKIRAS1, RPL15 6 1 7 0 0 0 0 0 14
RFWD3 2 0 7 1 3 0 0 0 13
FANCA, LOC130059837, LOC130059838 11 1 0 0 0 0 0 0 12
RPL19 0 0 0 11 1 0 0 0 12
FANCA, LOC112486223, LOC130059839 9 1 1 0 0 0 0 0 11
LOC129992625, SRP72 0 0 7 0 5 0 0 0 11
ZNF469 9 0 0 0 0 0 0 0 9
BRIP1, LOC130061360 4 0 4 0 0 0 0 0 8
GATA1, LOC119407405 0 0 3 3 2 0 0 0 8
HEATR3 5 1 3 0 0 0 0 0 8
MIR6797, RPS19 1 1 3 4 0 0 0 0 8
BRCA2, LOC106721785 0 1 3 2 1 0 0 0 7
FANCG, VCP 1 0 3 5 6 0 0 0 7
RPS10 0 1 2 3 1 0 0 0 7
LOC129390903, LOC130061310, LOC130061311, RAD51C 3 0 3 0 0 0 0 0 6
RAD51 2 3 1 0 0 0 0 0 6
BRIP1, LOC110120932, LOC130061360 1 0 4 0 0 0 0 0 5
RPS29 2 1 2 1 0 0 0 0 5
UBE2T 4 0 0 0 1 0 0 0 5
LOC129390903, LOC130061311, RAD51C 4 0 0 0 0 0 0 0 4
LOC130058347, SLX4 0 0 4 0 0 0 0 0 4
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 1 0 2 0 0 0 0 0 3
FANCA, SPIRE2 2 0 1 0 0 0 0 0 3
POLA1 0 3 0 0 0 0 0 0 3
RPS20 2 0 1 0 0 0 0 0 3
AOPEP, FANCC, LOC100507346, LOC105376156, LOC110121043, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC132089731, LOC132089732, LOC132089733, PTCH1 1 0 1 0 0 0 0 0 2
BRIP1, INTS2 2 0 0 0 0 0 0 0 2
BRIP1, LOC110120932 0 1 1 0 0 0 0 0 2
CDK10, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 2 0 0 0 0 0 0 0 2
DCLRE1B 2 0 0 0 0 0 0 0 2
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 0 0 0 0 2
FANCC, LOC130002128 1 0 1 0 0 0 0 0 2
FANCD2, LOC107303338, VHL 1 1 0 1 0 0 0 0 2
GATA1, GLOD5, SUV39H1, WAS 1 0 1 0 0 0 0 0 2
LOC126805872, RPS27 1 0 0 0 1 0 0 0 2
LOC126862570, RPL27 1 0 1 0 0 0 0 0 2
LOC130004143, POLR3A, RPS24 0 0 0 2 0 0 0 0 2
LOC130004144, POLR3A, RPS24 0 0 0 1 2 0 0 0 2
RPL17, RPL17-C18orf32 0 1 0 1 0 0 0 0 2
RPL27 0 0 1 0 1 0 0 0 2
RPS28 1 0 0 0 1 0 0 0 2
TP53 2 0 0 0 0 0 0 0 2
TSR2 1 0 0 1 0 0 0 0 2
ZCCHC8 0 2 0 0 0 0 0 0 2
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 0 0 1 0 0 0 0 0 1
ACSF3, ANKRD11, APRT, BANP, CA5A, CBFA2T3, CDH15, CDK10, CDT1, CENPBD1, CHMP1A, CPNE7, CTU2, CYBA, DBNDD1, DEF8, DPEP1, FANCA, GALNS, GAS8, IL17C, JPH3, KLHDC4, LOC101927817, MC1R, MVD, PABPN1L, PIEZO1, RNF166, RPL13, SLC22A31, SLC7A5, SNAI3, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TRAPPC2L, TUBB3, VPS9D1, ZC3H18, ZFPM1, ZNF276, ZNF469, ZNF778 0 0 1 0 0 0 0 0 1
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 0 0 0 1
ADI1, COLEC11, RNASEH1, RPS7, TRAPPC12 0 0 1 0 0 0 0 0 1
ADI1, RNASEH1, RPS7, TRAPPC12 0 0 1 0 0 0 0 0 1
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC112533665, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862483, LOC126862484, LOC126862485, LOC129390832, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, VAMP2, WRAP53 1 0 0 0 0 0 0 0 1
ANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 0 0 1 0 0 0 0 0 1
AP3B2, CPEB1, EFL1, GOLGA6L10, GOLGA6L9, LOC102724034, LOC113939947, LOC129390726, LOC130057764, LOC130057765, LOC130057766, LOC130057767, LOC130057768, LOC130057769, LOC130057770, LOC130057771, LOC130057772, LOC130057773, RPS17, SAXO2 1 0 0 0 0 0 0 0 1
ARHGEF15, KRBA2, ODF4, RANGRF, RPL26, SLC25A35 0 0 1 0 0 0 0 0 1
ASAP3, CNR2, E2F2, ELOA, FUCA1, GALE, GRHL3, HMGCL, HNRNPR, HTR1D, ID3, IFNLR1, IL22RA1, KDM1A, LUZP1, LYPLA2, MDS2, MYOM3, PITHD1, PNRC2, RPL11, SRSF10, TCEA3, ZNF436 1 0 0 0 0 0 0 0 1
BRCA1, LOC111589215 0 0 1 0 0 0 0 0 1
BRDT, BTBD8, C1orf146, CCDC18, DIPK1A, DR1, EPHX4, EVI5, FNBP1L, GFI1, GLMN, MTF2, RPAP2, RPL5, SNORD21, TMED5 1 0 0 0 0 0 0 0 1
BRDT, BTBD8, C1orf146, CDC7, DIPK1A, EPHX4, EVI5, GFI1, GLMN, HFM1, RPAP2, RPL5, SNORD21, TGFBR3 0 0 1 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL 1 0 0 0 0 0 0 0 1
BRK1, FANCD2, FANCD2OS, VHL 1 0 0 0 0 0 0 0 1
C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1 1 0 0 0 0 0 0 0 1
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 0 0 0 1
CDK10, CENPBD1, CHMP1A, CPNE7, DBNDD1, DEF8, DPEP1, FANCA, GAS8, MC1R, RPL13, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TUBB3, VPS9D1, ZNF276 0 0 1 0 0 0 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 1 0 0 0 0 0 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 0 0 1 0 0 0 0 0 1
CDK10, CHMP1A, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 1 0 0 0 0 0 0 0 1
CENPBD1, DBNDD1, DEF8, FANCA, GAS8, MC1R, SPIRE2, TCF25, TUBB3 1 0 0 0 0 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 0 0 0 1
DIPK1A, RPL5, SNORA66 0 0 0 0 1 0 0 0 1
DIPK1A, RPL5, SNORD21 1 0 0 0 0 0 0 0 1
DMD, FANCA 1 0 0 0 0 0 0 0 1
ERCC4, LOC130058543, LOC130058544 1 0 0 0 0 0 0 0 1
ERCC4, MIR193B, MIR365A, MRTFB, PARN 0 0 1 0 0 0 0 0 1
FANCA, LOC112486223, LOC125177396, LOC126862451, LOC128772421, LOC130059837, LOC130059838, LOC130059839, LOC130059840, LOC130059841, LOC130059842, LOC130059843, LOC130059844, LOC130059845, LOC130059846, LOC132090451, LOC132090890, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 0 1
FANCA, LOC112486223, LOC129390817, LOC130059837, LOC130059838, LOC130059839, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, ZNF276 1 0 0 0 0 0 0 0 1
FANCA, LOC112486223, LOC130059837, LOC130059838, LOC130059839 1 0 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, TUBB3 1 0 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 0 0 1
FANCC, PTCH1 0 0 1 0 0 0 0 0 1
FANCF, LOC130005443, LOC130005444 0 0 1 0 0 0 0 0 1
FANCL, LOC129388866, LOC129933782, VRK2 1 0 0 0 0 0 0 0 1
FANCL, LOC129388866, VRK2 0 1 0 0 0 0 0 0 1
FYTTD1, IQCG, LMLN, LOC107133517, LOC112935925, LOC112935926, LOC123464506, LOC126806937, LOC126806938, LOC129389199, LOC129389200, LOC129389201, LOC129938318, LOC129938319, LOC129938320, LOC129938321, LOC129938322, LOC129938323, LOC129938324, LOC129938325, LOC129938326, LOC129938327, LOC129938328, LOC129938329, LOC129938330, LRCH3, RPL35A, RUBCN 1 0 0 0 0 0 0 0 1
FYTTD1, IQCG, LRCH3, RPL35A, RUBCN 1 0 0 0 0 0 0 0 1
GCK 1 0 0 0 0 0 0 0 1
HEATR3, LOC130058980 0 0 1 0 0 0 0 0 1
HIRA 0 0 1 0 0 0 0 0 1
IKZF4, LOC116268441, RPS26 1 0 0 0 0 0 0 0 1
IKZF4, RPS26, SUOX 1 0 0 0 0 0 0 0 1
LGR6, UBE2T 1 0 0 0 0 0 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 0 0 0 1
LOC112939935, RPL9 0 1 0 0 0 0 0 0 1
LOC130058346, SLX4 0 0 1 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 0 1
PEX5 0 0 0 0 1 0 0 0 1
POT1 0 0 1 0 0 0 0 0 1
RPL18 1 0 0 0 0 0 0 0 1
RPL35 1 0 0 0 0 0 0 0 1
RPL8 0 0 1 0 0 0 0 0 1
RPS15A 1 0 0 0 0 0 0 0 1
ZNF699 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 142
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2367 625 10800 9510 725 0 0 0 24026
Fulgent Genetics, Fulgent Genetics 377 370 2856 491 57 0 0 0 4150
Illumina Laboratory Services, Illumina 4 6 1146 254 411 0 0 0 1814
Baylor Genetics 258 560 246 1 0 0 0 0 1065
Natera, Inc. 69 18 669 116 61 0 0 0 933
Leiden Open Variation Database 617 8 114 1 0 0 0 0 740
Sema4, Sema4 10 20 339 274 46 0 0 0 689
Counsyl 44 193 215 57 16 0 0 0 524
Revvity Omics, Revvity 113 48 116 0 0 0 0 0 277
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 0 0 54 191 0 0 0 247
Ambry Genetics 58 21 25 86 9 0 0 0 199
Mendelics 20 12 83 58 15 0 0 0 188
OMIM 184 0 1 0 0 0 0 0 185
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 12 7 162 2 0 0 0 0 183
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 64 71 0 0 0 0 0 0 135
Genome-Nilou Lab 0 2 17 11 89 0 0 0 119
Juno Genomics, Hangzhou Juno Genomics, Inc 38 25 2 0 0 0 0 0 65
Myriad Genetics, Inc. 8 53 3 0 0 0 0 0 64
Neuberg Centre For Genomic Medicine, NCGM 17 21 24 0 0 0 0 0 62
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 26 6 26 0 0 0 0 0 58
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 14 13 17 1 3 0 0 0 48
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 4 37 4 1 0 0 0 48
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 48 48
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 6 17 2 0 0 0 0 41
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 13 14 0 0 0 0 0 0 27
3billion, Medical Genetics 13 6 1 3 0 0 0 0 23
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 10 5 4 0 1 0 0 0 20
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 10 0 0 0 0 0 0 18
Daryl Scott Lab, Baylor College of Medicine 11 4 3 0 0 0 0 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 11 0 1 0 0 0 17
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 3 8 0 0 0 0 0 16
Genetic Services Laboratory, University of Chicago 11 4 0 0 0 0 0 0 15
GeneReviews 1 0 0 0 0 0 0 14 15
Istanbul Faculty of Medicine, Istanbul University 6 4 5 0 0 0 0 0 15
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 10 3 0 0 0 0 0 0 13
Johns Hopkins Genomics, Johns Hopkins University 3 0 8 2 0 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 0 10 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 4 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 2 1 6 0 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 5 0 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 5 2 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 2 1 0 0 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 3 1 0 0 0 0 0 7
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 2 0 0 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 3 2 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 0 2 0 0 0 0 0 7
Human Genetics Section, Sidra Medicine 3 3 1 0 0 0 0 0 7
Bone Marrow Failure laboratory, Queen Mary University London 0 5 1 0 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 6 2 0 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 1 1 0 1 0 0 0 6
New York Genome Center 1 1 4 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 0 0 5
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 3 0 0 0 0 0 0 5
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 5 0 0 0 0 0 0 0 5
MGZ Medical Genetics Center 3 1 0 0 0 0 0 0 4
Department of Hematology, University of Health Sciences 0 2 0 2 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 2 0 0 0 0 0 0 4
Molecular Genetics and Enzymology, National Research Centre 4 0 0 0 0 0 0 0 4
Undiagnosed Diseases Network, NIH 1 1 2 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 1 1 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 3 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 2 0 0 0 0 0 4
Suma Genomics 2 0 2 0 0 0 0 0 4
DASA 2 2 0 0 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 0 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 1 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 2 1 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 1 0 2 0 0 0 0 0 3
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 2 1 0 0 0 0 3
Medical Genetics Institute, Shaare Zedek Medical Center 2 0 0 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 0 0 2
Center for Individualized Medicine, Mayo Clinic 0 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 0 2
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 1 0 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 0 0 0 0 0 0 2
Department of Pathology and Genetics, University of Gothenburg 0 2 0 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 0 0 2
Department of Pediatrics, Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 0 0 0 0 0 2
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 0 2 0 0 0 0 0 0 2
Bertuch Lab, Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 2 0 0 0 0 0 2
Clinical Laboratory Sciences, Imam Abdulrahman Bin Faisal University 0 0 0 0 0 1 1 0 2
Pars Genome Lab 0 0 1 0 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 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
Hematology Diagnostic Laboratory, Assistance Publique-Hôpitaux de Paris - Robert Debre Hospital 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 0 0 1
King Laboratory, University of Washington 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Research Group Niklas Dahl, Uppsala University 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 0 1
International Fanconi Anemia Registry, The Rockefeller University 0 1 0 0 0 0 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 0 0 0 1
Molecular Medicine, NSW Health Pathology North, Newcastle 0 1 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 0 1
Pediatric Oncology and Hematology Unit, National and Kapodistrian University of Athens 0 1 0 0 0 0 0 0 1
Leuven Cancer Institute, KU Leuven and UZ Leuven 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 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
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 0 0 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 0 0 1
Cytogenetics and Genomics Laboratory, 'Dr. Enrique Corona Rivera' Institute of Human Genetics 1 0 0 0 0 0 0 0 1

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