ClinVar Miner

Variants studied for bone marrow disorder

Included ClinVar conditions (147):
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 association likely pathogenic, low penetrance risk factor not provided total
3548 1809 14326 10408 1251 9 3 1 1 113 29967

Gene and significance breakdown #

Total genes and gene combinations: 225
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association likely pathogenic, low penetrance risk factor not provided total
BRIP1 412 186 2288 1146 63 0 0 0 0 4 3988
FANCA 687 305 1301 1720 119 0 0 0 0 9 3761
FANCM 143 21 1236 567 46 0 0 1 0 0 2003
SLX4 96 29 1194 659 96 0 0 0 0 3 1987
FANCI 126 132 755 812 64 0 0 0 0 2 1780
RAD51C 146 63 765 375 17 0 0 0 0 2 1335
FANCD2, LOC107303338 98 82 383 458 60 0 0 0 0 1 1002
AOPEP, FANCC 88 86 408 363 29 0 0 0 0 3 900
CEBPA 32 15 570 259 13 0 0 0 0 11 889
FANCG 121 80 276 440 15 0 0 0 0 5 871
LPIN2 23 15 379 310 57 0 0 0 0 11 746
LOC107303340, VHL 110 36 395 169 10 0 0 0 0 2 706
FANCA, ZNF276 111 50 266 279 28 0 0 0 0 0 657
VHL 91 21 339 157 9 0 0 0 0 1 613
FANCL 64 55 235 267 26 0 0 0 0 0 610
NF1 99 68 352 83 1 0 0 0 0 0 602
FANCB 26 4 251 262 71 0 0 0 0 0 575
MPL 99 28 96 344 15 0 0 0 0 0 575
FANCE 33 33 241 252 24 0 0 0 0 0 546
ERCC4 28 4 293 189 27 0 0 0 0 1 526
FANCC 82 61 155 180 11 0 0 0 0 6 450
EGLN1 7 1 245 134 58 0 0 0 0 0 438
FANCD2, FANCD2OS 35 34 175 202 14 0 0 0 0 0 438
BRCA2 90 9 190 85 36 0 0 0 0 23 420
FANCF 32 16 227 92 21 0 0 0 0 0 370
PALB2 48 9 191 49 8 0 0 0 0 10 306
IL1RN 9 1 87 65 24 0 0 0 0 0 179
EPAS1 4 1 63 17 60 0 0 0 0 0 141
BRCA1 56 5 30 22 18 0 0 0 0 1 130
FANCA, LOC112486223 18 11 54 50 5 0 0 0 0 0 123
TP53 27 69 16 5 8 0 0 0 0 0 121
FANCE, LOC129996245 8 11 68 36 2 0 0 0 0 0 117
LOC129390903, RAD51C 19 3 67 30 0 0 0 0 0 1 117
PTPN11 39 10 29 18 14 0 0 0 0 0 108
FANCA, LOC130059837 18 13 43 31 1 0 0 0 0 0 90
RUNX1 7 12 55 6 10 0 0 0 0 0 87
FANCD2 20 7 28 25 3 0 0 0 0 0 80
SRP72 2 0 35 4 31 0 0 0 0 0 71
CBL 4 5 42 5 15 0 0 0 0 0 68
FANCI, POLG, POLGARF 2 0 29 25 10 0 0 0 0 0 63
EPOR 0 1 22 9 23 7 0 0 0 5 61
FANCA, LOC132090450 11 8 13 32 2 0 0 0 0 0 61
HBB, LOC106099062, LOC107133510 46 3 6 2 1 0 0 0 0 0 58
ERCC4, LOC130058543 4 0 36 16 1 0 0 0 0 0 57
GATA2 1 3 47 1 0 0 0 0 0 0 52
TERT 1 2 19 17 14 0 0 0 0 0 52
CEBPA, LOC130064183 0 0 32 11 0 0 0 0 0 0 43
FLT3 12 27 0 0 0 0 0 0 0 1 39
FANCF, LOC130005443 0 1 24 11 2 0 0 0 0 0 36
FANCL, VRK2 2 1 20 15 2 0 0 0 0 0 36
ABL1 2 26 0 5 0 0 1 0 0 1 33
EGLN1, LOC129932769 0 0 16 12 3 0 0 0 0 0 30
LOC130061310, RAD51C 2 2 9 18 0 0 0 0 0 0 29
NPM1 8 4 12 2 0 0 0 0 0 0 26
​intergenic 25 0 0 0 0 0 0 0 0 0 25
DNAJC21 13 3 10 1 0 0 0 0 0 2 25
HBB, LOC107133510, LOC110006319 18 0 5 1 0 0 0 0 0 0 24
XRCC2 0 3 17 3 4 0 0 0 0 0 24
KIT 3 3 13 3 0 0 0 0 0 1 23
FANCM, LOC130055524 1 0 12 8 0 0 0 0 0 0 21
KRAS 8 6 4 6 0 0 0 0 0 0 21
MYSM1 8 2 1 0 10 0 0 0 0 0 21
BRCA1, LOC126862571 8 0 8 2 2 0 0 0 0 0 20
ERCC6L2 2 5 9 2 2 0 0 0 0 0 20
FANCA, LOC132090445, ZNF276 4 2 3 11 0 0 0 0 0 0 18
PDGFRB 2 0 1 2 13 0 0 0 0 0 18
HBA1, LOC106804613 15 2 0 0 0 0 0 0 0 0 17
DNMT3A 7 7 2 0 1 0 0 0 0 0 16
FANCF, LOC130005444 0 1 9 4 1 0 0 0 0 0 15
NRAS 5 15 0 0 0 0 0 0 0 0 15
EPAS1, LOC129933655 0 0 9 1 3 0 0 0 0 0 13
HRAS, LRRC56 0 13 0 0 0 0 0 0 0 0 13
SF3B1 2 13 0 0 0 0 0 0 0 0 13
FANCA, LOC130059837, LOC130059838 11 1 0 0 0 0 0 0 0 0 12
HBA2, LOC106804612 9 1 1 0 1 0 0 0 0 0 12
FANCA, LOC112486223, LOC130059839 9 1 1 0 0 0 0 0 0 0 11
GATA1 11 0 0 0 0 0 0 0 0 0 11
INSL6, JAK2 2 4 3 1 1 1 0 0 0 2 11
RFWD3 2 0 3 1 3 0 0 0 0 0 9
SH2B3 3 0 4 0 1 1 0 0 0 0 9
ZNF469 9 0 0 0 0 0 0 0 0 0 9
BRIP1, LOC130061360 3 0 5 0 0 0 0 0 0 0 8
EPAS1, LOC126806210 0 0 2 2 4 0 0 0 0 0 8
IDH2 6 2 0 0 0 0 0 0 0 0 8
LOC129992625, SRP72 0 0 3 0 5 0 0 0 0 0 8
BCR 0 0 4 1 0 0 0 0 0 2 7
BRCA2, LOC106721785 0 1 3 2 1 0 0 0 0 0 7
FANCG, VCP 1 0 3 5 6 0 0 0 0 0 7
FANCI, POLG 2 1 2 1 2 0 0 0 0 0 7
IDH1 6 0 1 0 0 0 0 0 0 0 7
JAK3 0 7 0 0 0 0 0 0 0 0 7
NSD1 3 1 3 0 0 0 0 0 0 0 7
BRK1, FANCD2, FANCD2OS, VHL 3 0 3 0 0 0 0 0 0 0 6
DDX41 4 2 0 0 0 0 0 0 0 0 6
HBB, LOC106099062, LOC107133510, LOC110006319 6 0 0 0 0 0 0 0 0 0 6
LOC111811965, MIR4733HG, NF1 1 0 4 1 0 0 0 0 0 0 6
LOC129390903, LOC130061310, LOC130061311, RAD51C 3 0 3 0 0 0 0 0 0 0 6
RAD51 2 3 1 0 0 0 0 0 0 0 6
TCF3 0 3 3 0 0 0 0 0 0 0 6
BRIP1, LOC110120932, LOC130061360 1 0 4 0 0 0 0 0 0 0 5
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL 3 0 2 0 0 0 0 0 0 0 5
CBL, LOC130006895 0 0 1 3 1 0 0 0 0 0 5
UBE2T 4 0 0 0 1 0 0 0 0 0 5
ITPKB 1 2 1 0 0 0 0 0 0 0 4
LOC129390903, LOC130061311, RAD51C 4 0 0 0 0 0 0 0 0 0 4
LOC130058347, SLX4 0 0 4 0 0 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 0 0 4
PTEN 2 2 0 0 0 0 0 0 0 0 4
U2AF1 0 4 0 0 0 0 0 0 0 0 4
ADH5 3 0 0 0 0 0 0 0 0 0 3
ARHGAP26 3 0 0 0 0 0 0 0 0 0 3
ASXL1 2 0 1 0 0 0 0 0 0 0 3
LOC110806263, TERT 0 0 3 0 0 0 0 0 0 0 3
MDM4 1 0 2 0 0 0 0 0 0 0 3
PDGFRA 1 2 0 0 0 0 0 0 0 0 3
SRC 1 1 2 0 0 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 0 0 2
BRIP1, LOC110120932 0 1 1 0 0 0 0 0 0 0 2
CBFA2T3 2 0 0 0 0 0 0 0 0 0 2
CBL, FRA11B, LOC130006894 0 0 2 0 0 0 0 0 0 0 2
CSF3R 0 2 0 0 0 0 0 0 0 0 2
CTCF 0 2 0 0 0 0 0 0 0 0 2
DCLRE1B 2 0 0 0 0 0 0 0 0 0 2
EPO 2 0 0 0 0 0 0 0 0 0 2
EPOR, LOC130063571 0 0 1 0 1 0 0 0 0 0 2
ETV6 1 0 0 0 0 0 0 0 0 1 2
FANCA, LOC130059837, LOC130059838, LOC132090450 0 2 0 0 0 0 0 0 0 0 2
FANCA, SPIRE2 1 0 1 0 0 0 0 0 0 0 2
FANCC, LOC130002128 1 0 1 0 0 0 0 0 0 0 2
FANCD2, VHL 2 0 0 0 0 0 0 0 0 0 2
FGFR3 0 2 0 0 0 0 0 0 0 0 2
HBA1, HBA2, LOC106804612 1 0 1 0 0 0 0 0 0 0 2
ITPKB, LOC129932672 0 1 0 1 0 0 0 0 0 0 2
LOC129934333, TMEM127 0 0 2 0 0 0 0 0 0 0 2
LOC130062090, LOC130062091, LOC130062092, LPIN2 1 0 1 0 0 0 0 0 0 0 2
LPP 1 0 1 0 0 0 0 0 0 0 2
MFSD11, SRSF2 1 1 0 0 0 0 0 0 0 0 2
MLKL 0 0 0 0 0 0 2 0 0 0 2
NOTCH1 2 0 0 0 0 0 0 0 0 0 2
SETD2 0 2 0 0 0 0 0 0 0 0 2
TET2 1 0 1 0 0 0 0 0 0 0 2
WT1 0 1 1 0 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 0 0 1
ACP3 0 0 1 0 0 0 0 0 0 0 1
ALDH2 1 0 0 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 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR 0 1 0 0 0 0 0 0 0 0 1
ATM 1 0 0 0 0 0 0 0 0 0 1
BCOR 1 0 0 0 0 0 0 0 0 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 0 0 1 1
BRAF 0 1 0 0 0 0 0 0 0 0 1
C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1 1 0 0 0 0 0 0 0 0 0 1
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 0 0 0 1
CBFB 0 0 1 0 0 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 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276 1 0 0 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 0 0 1
CDK10, CHMP1A, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 1 0 0 0 0 0 0 0 0 0 1
CEBPA, GPATCH1, LRP3, RHPN2, SLC7A10, WDR88 0 0 1 0 0 0 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 0 0 0 1
CSF1R 0 1 0 0 0 0 0 0 0 0 1
CUX1 0 0 1 0 0 0 0 0 0 0 1
CUX2, SH2B3 0 0 0 1 0 0 0 0 0 0 1
DMD, FANCA 1 0 0 0 0 0 0 0 0 0 1
DNAJC21, LOC129993792 1 0 0 0 0 0 0 0 0 0 1
EMILIN2, LPIN2, SMCHD1 1 0 0 0 0 0 0 0 0 0 1
EPAS1, LOC129933654 0 0 1 0 0 0 0 0 0 0 1
EPOR, LOC130063570 0 0 1 0 0 0 0 0 0 0 1
ERBB3 0 1 0 0 0 0 0 0 1 0 1
ERCC4, LOC130058543, LOC130058544 1 0 0 0 0 0 0 0 0 0 1
ERCC4, MIR193B, MIR365A, MRTFB, PARN 0 0 1 0 0 0 0 0 0 0 1
ETV6, FLT3 0 1 0 0 0 0 0 0 0 0 1
ETV6, LOC126861451 1 0 0 0 0 0 0 0 0 0 1
EVI2A, NF1 1 0 0 0 0 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 0 0 1
FANCA, LOC112486223, LOC129390817, LOC130059837, LOC130059838, LOC130059839, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, ZNF276 1 0 0 0 0 0 0 0 0 0 1
FANCA, LOC112486223, LOC130059837, LOC130059838, LOC130059839 1 0 0 0 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25, ZNF276 1 0 0 0 0 0 0 0 0 0 1
FANCC, PTCH1 0 0 1 0 0 0 0 0 0 0 1
FANCF, LOC130005443, LOC130005444 0 0 1 0 0 0 0 0 0 0 1
FANCL, LOC129388866, LOC129933782, VRK2 1 0 0 0 0 0 0 0 0 0 1
FANCL, LOC129388866, VRK2 0 1 0 0 0 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 0 0 1
IKZF1 0 0 1 0 0 0 0 0 0 0 1
IL18BP, NUMA1 0 0 0 1 0 0 0 0 0 0 1
IL1F10, IL1RN, IL36RN 1 0 0 0 0 0 0 0 0 0 1
IL1R1 1 0 0 0 0 0 0 0 0 0 1
JAK1 0 1 0 0 0 0 0 0 0 0 1
JAK1, LOC126805749 0 1 0 0 0 0 0 0 0 0 1
KDM5A, NUP98 1 0 0 0 0 0 0 0 0 0 1
KLK2 1 0 0 0 0 0 0 0 0 0 1
KMT2A, MLLT6 1 0 0 0 0 0 0 0 0 0 1
KMT2A, SEPTIN9 1 0 0 0 0 0 0 0 0 0 1
LGR6, UBE2T 1 0 0 0 0 0 0 0 0 0 1
LOC100128494, NUMA1 0 0 0 1 0 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 0 0 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 0 0 0 0 0 1
LOC126805969, MIR181A1HG 1 0 0 0 0 0 0 0 0 0 1
LOC126807054, PDGFRA 0 1 0 0 0 0 0 0 0 0 1
LOC126807619, NSD1 1 0 0 0 0 0 0 0 0 0 1
LOC129931031, SLC30A7 1 0 0 0 0 0 0 0 0 0 1
LOC130003020, NOTCH1 1 0 0 0 0 0 0 0 0 0 1
LOC130058346, SLX4 0 0 1 0 0 0 0 0 0 0 1
LPIN2, MYL12A, MYL12B, MYOM1, TGIF1 0 0 1 0 0 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 0 0 1
MLLT10 0 0 1 0 0 0 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 0 0 0 1
NFKBIA 0 0 1 0 0 0 0 0 0 0 1
NUP214 0 0 1 0 0 0 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 0 0 0 1
RAD21 0 1 0 0 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 0 0 0 0 0 0 1
SETBP1 0 0 0 0 0 0 0 0 0 1 1
SF3B2 0 1 0 0 0 0 0 0 0 0 1
SH3GL1 0 0 0 0 1 0 0 0 0 0 1
SLC30A7 1 0 0 0 0 0 0 0 0 0 1
SLC9A2 0 0 1 0 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 0 0 1
SUZ12 0 1 0 0 0 0 0 0 0 0 1
TEK 0 1 0 0 0 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 158
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association likely pathogenic, low penetrance risk factor not provided total
Invitae 2289 639 11434 9641 703 0 0 0 0 0 24705
Fulgent Genetics, Fulgent Genetics 352 129 1784 579 65 0 0 0 0 0 2909
Illumina Laboratory Services, Illumina 4 5 1437 281 530 0 0 0 0 0 2251
Baylor Genetics 305 482 638 2 0 0 0 0 0 0 1427
Natera, Inc. 69 18 669 116 61 0 0 0 0 0 933
Leiden Open Variation Database 617 8 114 1 0 0 0 0 0 0 740
Sema4, Sema4 10 20 339 274 46 0 0 0 0 0 689
Counsyl 44 193 215 57 16 0 0 0 0 0 524
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 0 0 72 279 0 1 0 0 0 354
OMIM 264 0 1 0 0 9 0 0 1 0 274
Revvity Omics, Revvity 104 41 122 0 0 0 0 0 0 0 267
Database of Curated Mutations (DoCM) 30 206 0 0 0 0 0 0 0 4 239
Mendelics 26 18 115 52 15 0 0 0 0 0 226
Genome-Nilou Lab 0 2 18 10 100 0 0 0 0 0 130
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 7 5 101 1 0 0 0 0 0 0 114
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 49 62 0 0 0 0 0 0 0 0 111
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 21 4 62 6 2 0 0 0 0 0 95
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 23 39 20 0 0 0 0 0 83
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 33 16 30 1 0 0 0 0 0 0 80
Myriad Genetics, Inc. 8 53 3 0 0 0 0 0 0 0 64
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 16 13 25 0 0 0 0 0 0 0 54
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 53 53
GeneReviews 0 0 0 0 0 0 0 0 0 37 37
Nadeem Sheikh Lab, University of the Punjab 7 6 19 0 0 0 0 0 0 0 32
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 15 11 0 0 0 0 0 0 0 0 26
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 12 13 1 0 0 0 0 0 0 0 26
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 20 3 0 0 0 0 0 0 0 0 23
Ayesha Lab, University of the Punjab 0 6 11 0 6 0 0 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 3 8 2 0 0 0 0 0 0 21
Johns Hopkins Genomics, Johns Hopkins University 3 1 12 2 0 0 0 0 0 0 18
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 3 11 0 0 0 0 0 0 0 18
Genetic Services Laboratory, University of Chicago 13 4 0 0 0 0 0 0 0 0 17
3billion 10 5 2 0 0 0 0 0 0 0 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 12 0 1 0 0 0 0 0 16
Istanbul Faculty of Medicine, Istanbul University 7 4 5 0 0 0 0 0 0 0 16
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 6 8 1 0 0 0 0 0 0 0 15
Genetics and Molecular Pathology, SA Pathology 3 2 7 2 0 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 13 13
NIHR Bioresource Rare Diseases, University of Cambridge 4 9 0 0 0 0 0 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 6 3 0 0 0 0 0 0 0 12
McDonnell Genome Institute, Washington University in St. Louis 3 0 7 0 0 0 0 0 0 0 10
Daryl Scott Lab, Baylor College of Medicine 7 1 1 0 0 0 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 5 0 2 0 1 0 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 5 2 0 0 0 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 1 2 0 0 0 0 0 0 0 8
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 0 0 7 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 4 0 0 0 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 3 1 0 0 0 0 0 0 0 7
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 2 0 0 0 0 0 0 0 7
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 4 1 1 0 0 0 0 0 7
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 7 0 0 0 0 0 0 0 0 0 7
Fujian Institute of Hematology, Fujian Medical University 6 0 0 0 0 0 0 0 0 0 6
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 3 3 0 0 0 0 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 2 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 0 0 0 0 0 0 0 0 6
Molecular Diagnostics Laboratory, University of Rochester Medical Center 5 1 0 0 0 0 0 0 0 0 6
Hematological Lab, University of Education 6 0 0 0 0 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 1 0 0 0 0 0 0 0 0 5
Bone Marrow Failure laboratory, Queen Mary University London 2 3 0 0 0 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 2 0 0 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 1 0 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 0 0 0 0 5
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 4 0 1 0 0 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 0 0 0 0 0 0 4
Department of Hematology, University of Health Sciences 0 2 0 2 0 0 0 0 0 0 4
Molecular Genetics and Enzymology, National Research Centre 4 0 0 0 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 2 0 0 0 0 0 0 0 0 4
DASA 2 2 0 0 0 0 0 0 0 0 4
Druker Lab, Oregon Health and Sciences University 3 0 1 0 0 0 0 0 0 0 4
Cancer Genetics Lab, University of Education 4 0 0 0 0 0 0 0 0 0 4
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 4 0 0 0 0 0 0 0 0 0 4
Institute of Human Genetics, Cologne University 1 1 1 0 0 0 0 0 0 0 3
MGZ Medical Genetics Center 2 1 0 0 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 2 1 0 0 0 0 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 0 0 0 0 0 0 0 0 0 3
Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias, Institute of Hematology and Blood Transfusion 0 0 0 0 0 0 0 0 0 3 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 1 1 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 1 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 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 0 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 0 0 0 0 3
Medical Genetics Institute, Shaare Zedek Medical Center 2 0 0 0 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 0 0 0 0 2
Center for Individualized Medicine, Mayo Clinic 0 2 0 0 0 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 2 0 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 0 0 0 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 0 0 2
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center 2 0 0 0 0 0 0 0 0 0 2
Department of Pathology and Genetics, University of Gothenburg 0 2 0 0 0 0 0 0 0 0 2
Knight Cancer Institute, Oregon Health and Science University 0 2 0 0 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 0 0 2
Molecular Haematology Laboratory, NSW Health Pathology 2 0 0 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 0 0 2
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra 2 0 0 0 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 2 0 0 0 0 0 0 0 2
Godley laboratory, The University of Chicago 2 0 0 0 0 0 0 0 0 0 2
Vinuesa Lab, Australian National University 0 0 0 0 0 0 2 0 0 0 2
Pars Genome Lab 0 0 1 0 1 0 0 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 1 0 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 2 0 0 0 0 0 0 0 0 2
Hematopathology, The University of Texas M.D. Anderson Cancer Center 2 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 0 0 0 0 2
Suma Genomics 2 0 0 0 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 0 0 2
Center of Genomic Medicine, University of Medicine and Pharmacy Victor Babes Timisoara 2 0 0 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 1 0 0 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 0 0 0 1
INSERM UMR 1170, INSERM 0 1 0 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 0 0 1
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 0 0 1
Pediatric Leukemia/Lymphoma, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 0 1
Laboratory Oncology Unit, Dr.B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences 0 0 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 0 0 0 1
Cellular and Molecular Biology Laboratory, University of Campania Luigi Vanvitelli 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics, Medical University Pleven 0 0 0 0 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 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 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 0 1
Experimental and Health Sciences Department, Universitat Pompeu Fabra 0 0 1 0 0 0 0 0 0 0 1
Malcovati Lab, University of Pavia 0 0 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 0 0 1
International Fanconi Anemia Registry, The Rockefeller University 0 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 0 0 0 1
Molecular Medicine, NSW Health Pathology North, Newcastle 0 1 0 0 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 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 0 0 1
Department of Zoology, Division of Science and Technology, University of Education 1 0 0 0 0 0 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 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 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 0 0 0 1
Dr. Afia Zoology Lab, University of Education 0 0 0 0 1 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 0 0 1 0 0 0 0 0 0 0 1
Shandong Key Laboratory of Immunohematology, Qilu Hospital, Shandong University 1 0 0 0 0 0 0 0 0 0 1

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