Variants studied for bone marrow disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
3709	1982	14581	10416	1252	9	3	1	1	113	30504

Gene and significance breakdown #

Total genes and gene combinations: 234

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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	423	188	2287	1146	63	0	0	0	0	4	4002
FANCA	744	344	1305	1720	119	0	0	0	0	9	3845
FANCM	145	23	1237	567	46	0	0	1	0	0	2006
SLX4	96	30	1195	661	96	0	0	0	0	3	1989
FANCI	136	150	755	812	64	0	0	0	0	2	1804
RAD51C	155	66	769	375	17	0	0	0	0	2	1351
FANCD2, LOC107303338	97	103	385	457	60	0	0	0	0	1	1019
AOPEP, FANCC	89	94	408	365	29	0	0	0	0	3	904
CEBPA	32	15	579	259	13	0	0	0	0	11	898
FANCG	122	93	277	440	15	0	0	0	0	5	880
NF1	112	79	489	84	1	0	0	0	0	0	764
LPIN2	23	16	379	310	57	0	0	0	0	11	746
LOC107303340, VHL	110	37	397	169	10	0	0	0	0	2	707
FANCA, ZNF276	126	54	267	279	28	0	0	0	0	0	675
VHL	94	21	345	157	9	0	0	0	0	1	621
FANCL	69	63	234	267	26	0	0	0	0	0	620
FANCB	26	6	252	262	71	0	0	0	0	0	577
MPL	99	28	96	344	15	0	0	0	0	0	575
FANCE	34	39	242	252	24	0	0	0	0	0	550
ERCC4	29	4	293	189	27	0	0	0	0	1	527
FANCC	86	68	159	180	11	0	0	0	0	6	461
FANCD2, FANCD2OS	36	42	174	202	14	0	0	0	0	0	444
EGLN1	7	1	245	134	58	0	0	0	0	0	438
BRCA2	90	9	190	85	36	0	0	0	0	23	420
FANCF	33	21	228	92	21	0	0	0	0	0	378
PALB2	47	10	190	49	8	0	0	0	0	10	305
IL1RN	10	2	87	65	24	0	0	0	0	0	181
EPAS1	4	1	63	17	60	0	0	0	0	0	142
BRCA1	56	5	30	22	18	0	0	0	0	1	130
RUNX1	7	13	91	7	10	0	0	0	0	0	125
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	12	68	37	2	0	0	0	0	0	118
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	15	43	31	1	0	0	0	0	0	92
FANCD2	30	8	28	25	3	0	0	0	0	0	91
GATA2	1	3	80	1	0	0	0	0	0	0	85
SRP72	2	0	37	4	31	0	0	0	0	0	73
FANCI, POLG	5	1	31	26	12	0	0	0	0	0	71
CBL	5	5	42	5	15	0	0	0	0	0	68
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
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
FANCL, VRK2	3	2	21	15	2	0	0	0	0	0	39
FLT3	12	27	0	0	0	0	0	0	0	1	39
FANCF, LOC130005443	0	2	24	11	2	0	0	0	0	0	37
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
DNAJC21	14	4	11	1	0	0	0	0	0	2	28
NPM1	8	4	12	2	0	0	0	0	0	0	26
intergenic	25	0	0	0	0	0	0	0	0	0	25
XRCC2	0	3	18	3	4	0	0	0	0	0	25
HBB, LOC107133510, LOC110006319	18	0	5	1	0	0	0	0	0	0	24
KIT	3	3	13	3	0	0	0	0	0	1	23
ERCC6L2	3	5	10	2	2	0	0	0	0	0	22
MYSM1	8	2	2	0	10	0	0	0	0	0	22
FANCM, LOC130055524	1	0	12	9	0	0	0	0	0	0	21
KRAS	8	6	4	6	0	0	0	0	0	0	21
BRCA1, LOC126862571	8	0	8	2	2	0	0	0	0	0	20
FANCA, LOC132090445, ZNF276	4	2	3	11	0	0	0	0	0	0	18
HBA1, LOC106804613	16	2	0	0	0	0	0	0	0	0	18
PDGFRB	2	0	1	2	13	0	0	0	0	0	18
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
INSL6, JAK2	2	4	4	1	1	1	0	0	0	2	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
SH2B3	3	1	4	1	1	1	0	0	0	0	11
RFWD3	2	0	3	1	3	0	0	0	0	0	9
ZNF469	9	0	0	0	0	0	0	0	0	0	9
BRIP1, LOC130061360	4	0	4	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
IDH1	6	0	1	0	0	0	0	0	0	0	7
JAK3	0	7	0	0	0	0	0	0	0	0	7
LOC111811965, MIR4733HG, NF1	1	0	5	1	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
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
ADH5	3	0	1	0	0	0	0	0	0	0	4
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
ARHGAP26	3	0	0	0	0	0	0	0	0	0	3
ASXL1	2	0	1	0	0	0	0	0	0	0	3
FANCA, SPIRE2	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
WT1	0	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, INTS2	2	0	0	0	0	0	0	0	0	0	2
BRIP1, LOC110120932	0	1	1	0	0	0	0	0	0	0	2
CALR	1	0	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
CDK10, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276	2	0	0	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
EMILIN2, LPIN2, SMCHD1	1	0	1	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
FANCC, LOC130002128	1	0	1	0	0	0	0	0	0	0	2
FANCD2, LOC107303338, VHL	1	1	0	1	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
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
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	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
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
CENPBD1, DBNDD1, DEF8, FANCA, GAS8, MC1R, SPIRE2, TCF25, TUBB3	1	0	0	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
DCTN5, PALB2	1	0	0	0	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
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, TUBB3	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
HIRA	0	0	1	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
IRAK2, VHL	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	1	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
LOC129930616, MYSM1	0	0	1	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
ZCCHC8	0	1	0	0	0	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 169

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	likely pathogenic, low penetrance	risk factor	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	2409	658	11451	9641	703	0	0	0	0	0	24861
Fulgent Genetics, Fulgent Genetics	352	129	1784	579	65	0	0	0	0	0	2909
Illumina Laboratory Services, Illumina	4	6	1434	281	530	0	0	0	0	0	2249
Baylor Genetics	356	634	927	3	0	0	0	0	0	0	1920
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	3	0	0	72	279	0	1	0	0	0	355
OMIM	268	0	1	0	0	9	0	0	1	0	278
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	24	14	83	56	15	0	0	0	0	0	192
Genome-Nilou Lab	0	2	18	10	100	0	0	0	0	0	130
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	61	68	0	0	0	0	0	0	0	0	129
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	7	5	101	2	0	0	0	0	0	0	115
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
Neuberg Centre For Genomic Medicine, NCGM	18	19	32	0	0	0	0	0	0	0	69
Myriad Genetics, Inc.	8	53	3	0	0	0	0	0	0	0	64
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	15	18	20	1	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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	23	11	0	0	0	0	0	0	0	0	34
Nadeem Sheikh Lab, University of the Punjab	7	6	19	0	0	0	0	0	0	0	32
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	12	3	10	2	0	0	0	0	0	0	27
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
Ayesha Lab, University of the Punjab	0	6	11	0	6	0	0	0	0	0	23
3billion	10	5	2	4	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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	8	3	0	0	0	0	0	0	0	0	11
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	2	4	2	0	0	0	0	0	0	0	8
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	3	1	3	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
Human Genetics Section, Sidra Medicine	3	3	1	0	0	0	0	0	0	0	7
New York Genome Center	1	1	5	0	0	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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	4	2	0	0	0	0	0	0	0	0	6
Fujian Institute of Hematology, Fujian Medical University	6	0	0	0	0	0	0	0	0	0	6
Bone Marrow Failure laboratory, Queen Mary University London	2	4	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
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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	6	0	0	0	0	0	0	0	0	0	6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	5	0	0	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
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
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
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 Traditional Chinese Medicine, Fujian Provincial Hospital	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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	1	1	0	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 Laboratory, 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, 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	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
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital	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
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)	1	0	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
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
Molecular Genetics, Royal Melbourne Hospital	0	0	0	0	1	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
Palindrome, Gene Kavoshgaran Aria	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
Solve-RD Consortium	0	1	0	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
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital	0	1	0	0	0	0	0	0	0	0	1
Eleanor M. Freitas Health Laboratory	0	0	0	0	1	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	0	0	1

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