ClinVar Miner

Variants studied for aplastic anemia

Included ClinVar conditions (98):
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 association risk factor not provided total
3107 1581 12264 9406 1078 1 4 87 26081

Gene and significance breakdown #

Total genes and gene combinations: 154
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
BRIP1 412 186 2288 1146 63 0 0 4 3988
FANCA 687 305 1301 1720 119 0 0 9 3761
FANCM 143 20 1228 563 45 0 0 0 1996
SLX4 96 29 1194 659 96 0 0 3 1987
FANCI 126 132 755 812 64 0 0 2 1780
RAD51C 146 63 765 375 17 0 0 2 1335
FANCD2, LOC107303338 98 82 383 458 60 0 0 1 1002
AOPEP, FANCC 88 86 408 363 29 0 0 3 900
FANCG 121 80 276 440 15 0 0 5 871
FANCA, ZNF276 111 50 266 279 28 0 0 0 657
FANCL 64 55 235 267 26 0 0 0 610
FANCB 26 4 251 262 71 0 0 0 575
FANCE 33 33 241 252 24 0 0 0 546
ERCC4 28 4 293 189 27 0 0 1 526
FANCC 82 61 155 180 11 0 0 6 450
FANCD2, FANCD2OS 35 34 175 202 14 0 0 0 438
BRCA2 90 9 190 85 36 0 0 23 420
FANCF 32 16 227 92 21 0 0 0 370
PALB2 48 9 191 49 8 0 0 10 306
NBN 29 101 144 7 2 0 0 1 277
GATA1 31 2 117 68 43 0 0 0 261
DIPK1A, RPL5 46 15 97 72 17 1 1 0 231
RPS19 48 14 63 64 17 0 0 0 197
RPS7 7 4 64 68 13 0 0 0 150
RPL11 31 9 42 52 12 0 0 0 134
BRCA1 56 5 30 22 18 0 0 1 130
FANCA, LOC112486223 18 11 54 50 5 0 0 0 123
RPS10, RPS10-NUDT3 6 1 51 55 16 0 0 0 121
FANCE, LOC129996245 8 11 68 36 2 0 0 0 117
LOC129390903, RAD51C 19 3 67 30 0 0 0 1 117
RPS26 18 12 33 52 7 0 0 0 115
RPS24 8 3 40 58 10 0 0 0 113
IQCG, RPL35A 9 5 46 42 7 0 0 0 103
TERT 0 1 57 19 14 0 0 13 97
FANCA, LOC130059837 18 13 43 31 1 0 0 0 90
PRF1 39 27 17 0 0 0 0 0 82
FANCD2 20 7 28 25 3 0 0 0 80
SRP72 2 0 35 4 31 0 0 0 71
RPL26 1 0 30 32 6 0 0 1 67
FANCI, POLG, POLGARF 2 0 29 25 10 0 0 0 63
FANCA, LOC132090450 11 8 13 32 2 0 0 0 61
ERCC4, LOC130058543 4 0 36 16 1 0 0 0 57
FANCF, LOC130005443 0 1 24 11 2 0 0 0 36
FANCL, VRK2 2 1 20 15 2 0 0 0 36
RPL5 5 1 10 10 10 0 0 0 30
LOC130061310, RAD51C 2 2 9 18 0 0 0 0 29
PIGA 12 10 5 1 0 0 0 0 28
SBDS 10 16 2 0 0 0 0 0 26
​intergenic 24 0 0 0 0 0 0 0 24
XRCC2 0 3 17 3 4 0 0 0 24
FANCM, LOC130055524 1 0 12 8 0 0 0 0 21
LOC129929673, RPL11 2 0 4 11 4 0 0 0 21
LOC130004144, RPS24 3 0 4 11 4 0 0 0 21
MPL 7 6 7 1 0 0 0 0 21
BRCA1, LOC126862571 8 0 8 2 2 0 0 0 20
ERCC6L2 2 5 9 2 2 0 0 0 20
IFNG 0 0 15 2 2 0 0 0 19
FANCA, LOC132090445, ZNF276 4 2 3 11 0 0 0 0 18
FANCF, LOC130005444 0 1 9 4 1 0 0 0 15
RPS17 6 1 0 6 0 0 0 0 13
FANCA, LOC130059837, LOC130059838 11 1 0 0 0 0 0 0 12
PIGT 0 0 4 1 4 0 3 0 12
FANCA, LOC112486223, LOC130059839 9 1 1 0 0 0 0 0 11
LOC126860438, NBN 1 4 5 1 0 0 0 0 11
RPL19 0 0 0 10 1 0 0 0 11
LOC110806306, TERC 10 0 0 0 0 0 0 0 10
NKIRAS1, RPL15 6 1 3 0 0 0 0 0 10
RFWD3 2 0 3 1 3 0 0 0 9
ZNF469 9 0 0 0 0 0 0 0 9
BRIP1, LOC130061360 3 0 5 0 0 0 0 0 8
LOC129992625, SRP72 0 0 3 0 5 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
FANCI, POLG 2 1 2 1 2 0 0 0 7
LOC129390903, LOC130061310, LOC130061311, RAD51C 3 0 3 0 0 0 0 0 6
MIR6797, RPS19 1 0 2 3 0 0 0 0 6
RAD51 2 3 1 0 0 0 0 0 6
RPS10 0 1 1 3 1 0 0 0 6
BRIP1, LOC110120932, LOC130061360 1 0 4 0 0 0 0 0 5
GATA1, LOC119407405 0 0 1 2 2 0 0 0 5
HEATR3 5 1 0 0 0 0 0 0 5
LOC110806263, TERT 0 0 4 1 0 0 0 0 5
SH2B3 1 0 3 0 1 0 0 0 5
UBE2T 4 0 0 0 1 0 0 0 5
INSL6, JAK2 1 1 1 1 1 0 0 0 4
LOC129390903, LOC130061311, RAD51C 4 0 0 0 0 0 0 0 4
LOC130058347, SLX4 0 0 4 0 0 0 0 0 4
RPS29 2 1 1 1 0 0 0 0 4
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 1 0 2 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, LOC110120932 0 1 1 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
FANCA, SPIRE2 1 0 1 0 0 0 0 0 2
FANCC, LOC130002128 1 0 1 0 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
LOC130004143, POLR3A, RPS24 0 0 0 2 0 0 0 0 2
LOC130004144, POLR3A, RPS24 0 0 0 1 2 0 0 0 2
RPL27 0 0 1 0 1 0 0 0 2
RPS20 2 0 0 0 0 0 0 0 2
RPS28 1 0 0 0 1 0 0 0 2
TERC 2 0 0 0 0 0 0 0 2
TP53 2 0 0 0 0 0 0 0 2
TSR2 1 0 0 1 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
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
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 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
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
CALR 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 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
CUX2, SH2B3 0 0 0 1 0 0 0 0 1
DDX41 0 0 1 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, 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
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
LOC110806306 1 0 0 0 0 0 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 0 0 0 1
LOC126862570, RPL27 1 0 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
RPL18 1 0 0 0 0 0 0 0 1
RPL35 1 0 0 0 0 0 0 0 1
RPS15A 1 0 0 0 0 0 0 0 1
SRC 0 1 0 0 0 0 0 0 1
TINF2 0 0 0 0 0 0 0 1 1
ZNF699 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 130
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 2080 577 10045 8762 722 0 0 0 22185
Fulgent Genetics, Fulgent Genetics 251 110 1349 479 63 0 0 0 2252
Illumina Laboratory Services, Illumina 4 5 1208 270 426 0 0 0 1906
Baylor Genetics 296 562 365 1 0 0 0 0 1224
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 1 1 0 54 191 0 0 0 247
Mendelics 25 17 114 54 15 0 0 0 225
OMIM 201 0 1 0 0 0 1 0 203
Ambry Genetics 57 19 25 73 9 0 0 0 183
Genome-Nilou Lab 0 2 17 11 93 0 0 0 123
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 46 62 0 0 0 0 0 0 108
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 4 89 0 0 0 0 0 99
Myriad Genetics, Inc. 8 53 3 0 0 0 0 0 64
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 5 44 4 1 0 0 0 59
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 26 6 26 0 0 0 0 0 58
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 49 49
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 15 13 19 0 0 0 0 0 47
GeneReviews 14 0 0 0 0 0 0 26 40
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 13 13 0 0 0 0 0 0 26
3billion 13 7 1 0 0 0 0 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 3 10 2 0 0 0 0 19
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 1 11 0 1 0 0 0 18
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 10 3 3 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
Istanbul Faculty of Medicine, Istanbul University 6 4 5 0 0 0 0 0 15
Johns Hopkins Genomics, Johns Hopkins University 3 0 8 2 0 0 0 0 13
Genetics and Molecular Pathology, SA Pathology 3 1 7 1 0 0 0 0 12
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 6 0 0 0 0 0 9
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 2 2 0 0 0 2 0 9
Daryl Scott Lab, Baylor College of Medicine 7 1 1 0 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 5 2 0 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 1 0 0 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 5 2 0 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 2 0 0 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 3 1 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 0 2 0 0 0 0 0 7
Pangenia Genomics, Pangenia Inc. 0 5 2 0 0 0 0 0 7
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
NIHR Bioresource Rare Diseases, University of Cambridge 0 5 0 0 0 0 0 0 5
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 3 0 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 1 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 0 0 0 0 0 0 0 4
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
Molecular Genetics and Enzymology, National Research Centre 4 0 0 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 1 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
New York Genome Center 0 0 4 0 0 0 0 0 4
DASA 2 2 0 0 0 0 0 0 4
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
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 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 Program, 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 3 0 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 0 0 2
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
Radiation Cancer Biology Lab, University of Rajasthan Jaipur 0 0 0 0 0 0 0 2 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 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
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
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 0 0 1
Bone Marrow Failure laboratory, Queen Mary University London 0 0 1 0 0 0 0 0 1
INSERM UMR 1170, INSERM 0 1 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
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 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
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
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
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 0 0 1
Gastroenterology Department, Qilu Hospital of Shandong University 0 0 1 0 0 0 0 0 1
Gene Mapping Laboratory, Hacettepe University 1 0 0 0 0 0 0 0 1
Suma Genomics 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
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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.