ClinVar Miner

Variants studied for lung disorder

Included ClinVar conditions (132):
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 confers sensitivity likely risk allele risk factor not provided total
1422 1332 5906 5341 670 28 4 110 4 104 14438

Gene and significance breakdown #

Total genes and gene combinations: 260
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity likely risk allele risk factor not provided total
RTEL1, RTEL1-TNFRSF6B 124 56 1001 1642 101 0 0 12 0 0 2907
TERT 88 51 1089 1186 67 1 0 46 0 7 2438
CASR 142 81 1272 697 35 0 0 0 0 5 2168
SMPD1 165 131 94 377 38 0 0 0 0 0 775
PARN 34 26 335 281 25 0 0 10 0 1 698
MARS1 6 4 363 213 29 0 0 0 0 0 610
ABCA3 33 28 392 153 36 0 0 0 0 0 587
CFTR 237 122 80 3 3 0 0 0 2 0 442
TSC2 43 10 144 152 4 0 0 0 0 39 386
CSF2RA 17 4 143 136 24 0 0 0 0 1 324
HPS1 31 63 102 33 42 0 0 0 0 4 262
TP53 7 204 3 0 0 0 0 0 0 0 212
LOC110806263, TERT 12 2 86 99 3 0 0 6 0 4 201
HPS4 16 41 97 13 19 0 0 0 0 1 176
SFTPB 11 5 78 44 20 0 0 0 0 0 144
EGFR 17 57 25 23 9 0 0 0 0 4 122
TSC1 15 2 44 40 3 0 0 0 0 6 109
SFTPC 13 13 39 27 19 0 0 5 0 0 96
SCNN1A 6 5 36 12 40 0 0 0 0 0 93
EIF2AK4 31 18 9 15 22 0 0 0 0 0 92
DICER1 13 7 27 22 20 0 0 0 0 1 89
SCNN1B 9 2 32 19 34 0 0 0 0 0 89
BRAF 17 31 12 23 1 0 0 0 0 1 78
FOXF1 35 12 15 6 7 0 0 0 0 0 72
NBAS 22 15 13 1 14 0 0 0 0 0 60
BMPR2 16 2 28 10 0 0 0 0 0 0 55
CFTR, LOC111674472 27 14 7 0 0 0 0 0 0 0 48
PIK3CA 8 41 6 0 0 0 0 0 0 0 48
KRAS 19 10 5 6 0 0 0 0 0 3 35
LOC130005193, SMPD1 11 0 3 20 2 0 0 0 0 0 35
GNA11 4 0 9 16 1 0 0 0 0 0 30
ARHGAP9, MARS1 0 0 17 8 1 0 0 0 0 0 26
ERCC6 7 0 17 2 0 0 0 0 0 0 26
SCNN1G 2 1 11 6 6 0 0 0 0 0 25
SLC27A4 14 6 5 0 0 0 0 0 0 1 25
LOC110806306, TERC 12 2 3 2 0 0 0 8 0 0 24
CTNNB1, LOC126806658 0 22 0 0 0 0 0 0 0 0 22
PRKN 4 2 8 5 3 0 0 0 0 0 22
ALK 0 12 6 2 0 0 0 0 0 7 21
CFTR, LOC111674475 17 2 2 0 0 0 0 0 0 0 21
HRAS, LRRC56 0 16 4 1 0 0 0 0 0 0 21
NSDHL 10 5 2 0 2 0 0 0 0 4 20
RTEL1 9 5 5 0 0 0 0 0 0 0 19
DDR2 0 6 9 1 1 0 0 0 0 6 18
RB1 6 1 8 1 1 0 0 0 0 0 17
CDKN2A 0 13 3 0 0 0 0 0 0 0 16
ERBB2 5 14 0 0 0 0 0 0 0 0 16
CSF2RB 2 0 12 1 0 0 0 0 0 0 15
MUC5B 0 0 8 4 2 0 0 0 1 0 15
SFTPA2 5 3 4 0 4 0 0 1 0 0 15
FBXW7 0 14 0 0 0 0 0 0 0 0 14
SLC34A2 5 3 3 0 4 0 0 0 0 0 14
STK11 0 6 6 1 0 0 0 0 0 0 13
AP2S1 3 0 2 5 1 0 0 0 0 0 11
CFTR, LOC111674477 6 5 0 0 0 0 0 0 0 0 11
FARSB 10 4 0 1 0 0 0 0 0 0 11
GC 1 9 1 0 0 0 0 0 0 0 11
KIF15 0 0 0 0 0 0 0 11 0 0 11
MAP2K1 3 8 1 0 0 0 0 0 0 0 11
NRAS 9 5 0 0 0 0 0 0 0 0 11
SMAD4 0 9 0 0 0 0 1 0 0 0 10
ABCA3, LOC130058230 0 0 6 0 3 0 0 0 0 0 9
BMP1, SFTPC 0 0 0 1 9 0 0 0 0 0 9
NFE2L2 0 9 0 0 0 0 0 0 0 0 9
ZCCHC8 1 0 5 1 2 0 0 0 0 0 9
FARSA 3 1 4 0 0 0 0 0 0 0 8
FGFR2 0 6 2 0 0 0 0 0 0 0 8
LTBR, SCNN1A 0 0 1 3 4 0 0 0 0 0 8
MUC5AC 0 0 7 1 0 0 0 0 0 0 8
NAF1 3 0 1 0 0 0 0 4 0 0 8
NLRP3 0 0 8 0 0 0 0 0 0 0 8
CFTR, LOC113664106 6 1 0 0 0 0 0 0 0 0 7
MARS1, MIR6758 0 0 2 5 0 0 0 0 0 0 7
PTEN 1 4 2 0 0 0 0 0 0 0 7
ROS1 2 1 4 0 1 0 0 0 0 0 7
B2M 0 5 0 0 0 0 0 0 0 0 5
FAM13A 0 0 2 0 0 4 0 0 0 0 5
FGFR3 0 2 2 1 0 0 0 0 0 0 5
FLT1 0 0 5 0 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 0 5
MLH1 0 2 3 0 0 0 0 0 0 0 5
NKX2-1, SFTA3 0 0 4 0 1 0 0 0 0 0 5
TLR4 0 0 3 1 0 0 0 1 0 0 5
​intergenic 1 0 1 0 0 2 0 0 0 0 4
AGER 0 0 3 0 0 0 0 1 0 0 4
BMP1, LOC129999976, SFTPC 0 0 1 1 2 0 0 0 0 0 4
CDK4 0 4 0 0 0 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 0 4
PADI2 0 0 0 0 0 4 0 0 0 0 4
PADI4 0 0 0 0 0 4 0 0 0 0 4
PTPN11 0 4 0 0 0 0 0 0 0 0 4
RIN3 0 0 4 0 0 0 0 0 0 0 4
RPA1 3 0 1 0 0 0 0 0 0 0 4
ADAM19 0 0 3 0 0 0 0 0 0 0 3
ADGRG6 0 0 3 0 0 0 0 0 0 0 3
AHRR, BRD9, CEP72, EXOC3, NKD2, PDCD6, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 2 0 1 0 0 0 0 0 0 0 3
ARAF 0 3 0 0 0 0 0 0 0 1 3
BRAF, LOC126860202 0 0 2 1 0 0 0 0 0 0 3
BRWD1 0 1 2 0 0 0 0 0 0 0 3
CASP8 0 1 1 1 0 0 0 0 0 0 3
DNMT3A 0 3 0 0 0 0 0 0 0 0 3
EIF2AK4, LOC130056813 0 1 0 0 2 0 0 0 0 0 3
FGF10 1 1 1 0 0 0 0 0 0 0 3
FOXP2 0 0 3 0 0 0 0 0 0 0 3
FOXP4 0 0 3 0 0 0 0 0 0 0 3
GNAS 0 3 0 0 0 0 0 0 0 0 3
HHIP 0 0 0 0 0 3 0 0 0 0 3
KIT 0 0 2 0 0 0 0 0 0 1 3
LOC110806263, LOC110806264, LOC123493259, TERT 0 0 3 0 0 0 0 0 0 0 3
MYC 0 3 0 0 0 0 0 0 0 0 3
PDGFRA 0 0 2 1 0 0 0 0 0 0 3
PKD1L1 0 0 3 0 0 0 0 0 0 0 3
PPP2R1A 0 3 0 0 0 0 0 0 0 0 3
PTCH1 0 0 2 1 0 0 0 0 0 0 3
RTEL1, TNFRSF6B 1 0 2 0 0 0 0 0 0 0 3
TERC 1 0 0 0 0 0 0 2 0 0 3
ADAMTSL3 0 0 2 0 0 0 0 0 0 0 2
AKT1 1 1 1 0 0 0 0 0 0 0 2
APBB1, SMPD1 2 0 0 0 0 0 0 0 0 0 2
APC 0 1 1 0 0 0 0 0 0 0 2
CD163 0 0 2 0 0 0 0 0 0 0 2
CFTR, LOC111674463 0 1 0 1 0 0 0 0 0 0 2
CFTR, LOC113633877 1 0 1 0 0 0 0 0 0 0 2
CHAT 2 0 0 0 0 0 0 0 0 0 2
CHEK2 0 1 1 0 0 0 0 0 0 0 2
CHRNB4 1 0 1 0 0 0 0 0 0 0 2
DKC1 0 0 0 0 0 0 0 2 0 0 2
DYNC2H1 0 2 0 0 0 0 0 0 0 0 2
EP300 0 2 0 0 0 0 0 0 0 0 2
EPHA2 0 2 0 0 0 0 0 0 0 0 2
ERCC6, PGBD3 1 0 1 0 0 0 0 0 0 0 2
FASLG 0 0 2 0 0 0 0 0 0 0 2
H3C2 0 0 1 1 0 0 0 0 0 0 2
HSPA1A 0 0 0 0 0 2 0 0 0 0 2
HSPA1A, LOC107063610 0 0 0 0 0 2 0 0 0 0 2
HSPA1B 0 0 0 0 0 2 0 0 0 0 2
HTR4 0 0 1 1 0 0 0 0 0 0 2
IREB2 0 0 2 0 0 0 0 0 0 0 2
KMT2D 0 2 0 0 0 0 0 0 0 0 2
LINC01082 2 0 0 0 0 0 0 0 0 0 2
LOC110806264, TERT 0 0 0 1 1 0 0 0 0 0 2
LOC126859871, PRKN 0 0 0 2 0 0 0 0 0 0 2
LOC130007233, SCNN1A, TNFRSF1A 0 0 0 2 0 0 0 0 0 0 2
MED12 0 2 0 0 0 0 0 0 0 0 2
MET 1 0 1 0 0 0 0 0 0 0 2
MMP1 0 0 1 1 0 0 0 0 0 0 2
MYO9A 0 0 2 0 0 0 0 0 0 0 2
NOTCH1 0 0 0 0 0 0 0 0 0 2 2
PALB2 1 0 1 0 0 0 0 0 0 0 2
RAF1 0 2 0 0 0 0 0 0 0 0 2
RHOA 0 2 0 0 0 0 0 0 0 0 2
SCNN1A, TNFRSF1A 0 0 0 1 1 0 0 0 0 0 2
SERPINA1 2 0 0 0 0 0 0 0 1 0 2
SLC22A18 1 0 1 0 0 0 0 0 0 0 2
TAMM41 2 0 0 0 0 0 0 0 0 0 2
TOLLIP 0 0 2 0 0 1 0 0 0 0 2
U2AF1 0 2 0 0 0 0 0 0 0 0 2
ABCB1 0 0 0 0 0 0 0 0 0 1 1
ACTA2, PLAG1 0 1 0 0 0 0 0 0 0 0 1
ADAD2, ATP2C2, C16orf74, CIBAR2, COTL1, COX4I1, CRISPLD2, DNAAF1, EMC8, GINS2, GSE1, HSDL1, IRF8, KCNG4, KIAA0513, KLHL36, LINC01082, LOC654780, MBTPS1, MEAK7, MLYCD, NECAB2, OSGIN1, SLC38A8, TAF1C, USP10, WFDC1, ZDHHC7 0 1 0 0 0 0 0 0 0 0 1
ADCY5, CASR, CCDC14, CD86, CSTA, DTX3L, EAF2, FAM162A, HACD2, HEG1, HSPBAP1, ILDR1, IQCB1, ITGB5, KALRN, KPNA1, MIX23, MUC13, MYLK, OSBPL11, PARP14, PARP15, PARP9, PDIA5, ROPN1, SEC22A, SEMA5B, SLC12A8, SLC15A2, SLC49A4, SNX4, UMPS, WDR5B, ZNF148 0 0 1 0 0 0 0 0 0 0 1
AGAP2, APOF, ARHGAP9, ARHGEF25, ATP5F1B, B4GALNT1, BAZ2A, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, GLS2, GPR182, HSD17B6, IL23A, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIP, MIR616, MYO1A, NAB2, NACA, NDUFA4L2, NEMP1, NXPH4, OS9, PAN2, PIP4K2C, PRIM1, PTGES3, R3HDM2, RBMS2, RDH16, SDR9C7, SHMT2, SPRYD4, STAC3, STAT2, STAT6, TAC3, TIMELESS, TSFM, TSPAN31, ZBTB39 0 0 1 0 0 0 0 0 0 0 1
AKT2 0 1 0 0 0 0 0 0 0 0 1
ALK, ARHGEF33, ATL2, BIRC6, CAPN13, CAPN14, CDC42EP3, CDKL4, CEBPZ, CRIM1, CYP1B1, DHX57, DPY30, EHD3, EIF2AK2, EML4, FAM98A, FEZ2, GALM, GALNT14, GEMIN6, GPATCH11, HEATR5B, HNRNPLL, LBH, LCLAT1, LINC02898, LTBP1, MAP4K3, MEMO1, MORN2, NDUFAF7, NLRC4, PKDCC, PRKD3, QPCT, RASGRP3, RMDN2, SLC30A6, SLC8A1, SOS1, SOS1-IT1, SPAST, SRD5A2, SRSF7, STRN, SULT6B1, THUMPD2, TMEM178A, TTC27, VIT, XDH, YIPF4, YPEL5 1 0 0 0 0 0 0 0 0 0 1
ALK, SLMAP 1 0 0 0 0 0 0 0 0 0 1
ALX1 0 0 1 0 0 0 0 0 0 0 1
ATM 0 0 1 0 0 0 0 0 0 0 1
BARD1 0 0 0 1 0 0 0 0 0 0 1
BMP2 0 0 0 0 0 0 1 0 0 0 1
BMPR2, LOC129935434 0 0 0 0 1 0 0 0 0 0 1
BRCA1 1 0 0 0 0 0 0 0 0 0 1
BRD9, CEP72, CLPTM1L, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 0 0 0 0 0 0 0 1
BRWD1, LOC130066680 0 0 1 0 0 0 0 0 0 0 1
C16orf74, C16orf95, CIBAR2, COX4I1, CRISPLD2, EMC8, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, GINS2, GSE1, IRF8, JPH3, KIAA0513, LINC01082, MAP1LC3B, MTHFSD, ZCCHC14, ZCCHC14-DT, ZDHHC7 1 0 0 0 0 0 0 0 0 0 1
C16orf95, FBXO31, FENDRR, FOXC2, FOXF1, FOXL1, JPH3, MAP1LC3B, MTHFSD, ZCCHC14, ZCCHC14-DT 1 0 0 0 0 0 0 0 0 0 1
CASR, CSTA 1 0 0 0 0 0 0 0 0 0 1
CDK12 0 1 0 0 0 0 0 0 0 0 1
CHRNA3 0 0 1 0 0 0 0 0 0 0 1
CHRNA3, CHRNA5 0 0 1 0 0 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 0 0 1 0 0 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3, TNFRSF6B 1 0 0 0 0 0 0 0 0 0 1
CHRNA5 0 0 1 0 0 0 0 0 0 0 1
CLPTM1L, SLC6A18, SLC6A19, SLC6A3, TERT 0 0 1 0 0 0 0 0 0 0 1
CLPTM1L, SLC6A3, TERT 0 0 1 0 0 0 0 0 0 0 1
CLPTM1L, TERT 0 0 1 0 0 0 0 0 0 0 1
CSF2RA, MIR3690 1 0 0 0 0 0 0 0 0 0 1
CSF2RB, LOC126863140 0 0 1 0 0 0 0 0 0 0 1
CTC1 0 0 1 0 0 0 0 0 0 0 1
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 0 0 0 0 0 1
DES 0 0 1 0 0 0 0 0 0 0 1
DHX34 0 1 0 0 0 0 0 0 0 0 1
DSP 0 0 1 0 0 1 0 0 0 0 1
DTNBP1 0 0 1 0 0 0 0 0 0 0 1
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 0 0 0 0 0 0 1
EPHA5 0 1 0 0 0 0 0 0 0 0 1
EPHB6, KEL, LLCFC1, MTRNR2L6, PRSS1, PRSS58, TRB, TRPV5, TRPV6 0 0 1 0 0 0 0 0 0 0 1
ERCC2 0 0 0 0 0 0 0 0 0 1 1
ERCC6, LOC126860933 1 0 0 0 0 0 0 0 0 0 1
ERF 0 0 1 0 0 0 0 0 0 0 1
FENDRR, FOXF1 1 0 0 0 0 0 0 0 0 0 1
FLT1, LOC124849303 0 0 1 0 0 0 0 0 0 0 1
FOXP4, LOC129996415 0 0 1 0 0 0 0 0 0 0 1
FOXP4, LOC129996416 0 0 1 0 0 0 0 0 0 0 1
FPR2 0 0 1 0 0 0 0 0 0 0 1
GATA4 0 0 1 0 0 0 0 0 0 0 1
H3C2, LOC129996007 0 0 1 0 0 0 0 0 0 0 1
HMOX1 0 0 0 1 0 0 0 0 0 0 1
HPS1, LOC130004494 0 0 0 1 0 0 0 0 0 0 1
HPS1, MIR4685 1 0 0 0 0 0 0 0 0 1 1
HPS4, LOC130067147 0 0 0 1 0 0 0 0 0 0 1
HSPA1L 0 0 0 0 0 1 0 0 0 0 1
HYKK 0 1 0 0 0 0 0 0 0 0 1
IL1RN 0 0 1 0 0 0 0 0 0 0 1
INPP5E 1 0 0 0 0 0 0 0 0 0 1
IRF1 1 0 0 0 0 0 0 0 0 0 1
ITGA3 0 0 1 0 0 0 0 0 0 0 1
LAMA3 0 0 1 0 0 0 0 0 0 0 1
LOC107303340, VHL 0 0 1 0 0 0 0 0 0 0 1
LOC110006318, STK11 0 0 1 0 0 0 0 0 0 0 1
LOC126860749, TLR4 0 0 1 0 0 0 0 0 0 0 1
LOC126861112, MUC5AC 0 0 1 0 0 0 0 0 0 0 1
LOC128772425, LOC128772426, RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 0 0 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 0 0 0 0 1
LOC130058210, TSC2 0 0 1 0 0 0 0 0 0 0 1
LOC130062899, STK11 0 1 0 0 0 0 0 0 0 0 1
LOX, SRFBP1 0 0 1 0 0 0 0 0 0 0 1
MEN1 1 0 0 0 0 0 0 0 0 0 1
MMP19 0 0 1 0 0 0 0 0 0 0 1
MSH6 0 0 1 0 0 0 0 0 0 0 1
NKD2, SLC12A7, SLC6A18, SLC6A19, TERT, TRIP13 0 0 1 0 0 0 0 0 0 0 1
NKX2-1 0 0 1 0 0 0 0 0 0 0 1
NOP10 1 0 0 0 0 0 0 0 0 0 1
NPRL2 0 1 0 0 0 0 0 0 0 0 1
NQO1 0 0 0 0 0 0 0 0 0 1 1
NTHL1, TSC2 0 0 1 0 0 0 0 0 0 0 1
PACRG, PRKN 1 0 0 0 0 0 0 0 0 0 1
PITX2 0 0 1 0 0 0 0 0 0 0 1
PKD1, TSC2 0 0 1 0 0 0 0 0 0 0 1
POT1 1 0 0 0 0 0 0 0 0 0 1
PPM1D 0 0 1 0 0 0 0 0 0 0 1
PPP2R1B 1 0 0 0 0 0 0 0 0 0 1
PPP6C 0 1 0 0 0 0 0 0 0 0 1
RAD50 0 0 1 0 0 0 0 0 0 0 1
ROCK1 0 1 0 0 0 0 0 0 0 0 1
RTKN2 0 0 1 0 0 0 0 0 0 0 1
SCGB1A1 0 0 0 0 0 1 0 0 0 0 1
SFTPA1 0 0 1 0 0 0 0 0 0 0 1
SLC6A18, SLC6A19, TERT 0 0 1 0 0 0 0 0 0 0 1
SMAD3 0 0 0 0 0 0 1 0 0 0 1
SMAD9 0 0 0 0 0 0 1 0 0 0 1
SOS1 0 1 0 0 0 0 0 0 0 0 1
STAT1 1 0 0 0 0 0 0 0 0 0 1
TGFB2 0 0 1 0 0 0 0 0 0 0 1
TINF2 0 0 0 0 0 0 0 1 0 0 1
TNFRSF13B 0 0 1 0 0 0 0 0 0 0 1
TP73 0 1 0 0 0 0 0 0 0 0 1
USP11 0 1 0 0 0 0 0 0 0 0 1
VANGL1 0 0 1 0 0 0 0 0 0 0 1
VDR 0 1 0 0 0 0 0 0 0 0 1
XRCC1 0 0 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 169
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity likely risk allele risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 514 210 4298 4644 286 0 0 0 0 0 9952
Fulgent Genetics, Fulgent Genetics 157 45 535 369 25 0 0 0 0 0 1131
Illumina Laboratory Services, Illumina 3 1 481 111 236 0 0 0 0 0 829
Baylor Genetics 320 226 51 0 0 0 0 0 0 0 597
Ambry Genetics 29 17 291 177 32 0 0 0 0 0 546
Database of Curated Mutations (DoCM) 46 478 0 0 0 0 0 0 0 26 514
OMIM 225 0 0 0 0 0 0 0 2 0 227
Johns Hopkins Genomics, Johns Hopkins University 14 11 94 30 12 0 0 0 0 0 161
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 13 11 0 0 0 0 0 108 0 0 124
Genome-Nilou Lab 2 1 4 3 111 0 0 0 0 0 121
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 9 1 83 4 4 0 0 0 0 0 101
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 40 34 0 0 0 0 0 0 2 2 78
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 42 0 3 1 0 0 0 0 0 75
Mendelics 23 8 14 17 10 0 0 0 0 0 72
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 13 8 40 6 0 0 0 0 0 0 67
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 8 41 9 0 0 0 0 0 0 58
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 6 14 24 0 0 0 0 0 46
Revvity Omics, Revvity 14 7 23 1 0 0 0 0 0 0 45
Huiwen Zhang's lab, Shanghai Jiao Tong University School of Medicine, Xinhua Hospital 13 27 1 0 0 0 0 0 0 0 41
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 16 25 0 0 0 0 0 41
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 0 0 39 39
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 13 16 2 0 0 0 0 0 0 38
Juno Genomics, Hangzhou Juno Genomics, Inc 21 7 10 0 0 0 0 0 0 0 38
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 9 0 0 28 0 2 0 0 35
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 34 0 0 0 0 0 0 0 0 34
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 6 11 0 0 0 0 0 0 0 30
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 2 8 1 1 0 0 0 0 0 27
Neuberg Centre For Genomic Medicine, NCGM 6 4 16 0 0 0 0 0 0 0 26
Alder lab, University of Pittsburgh 1 3 20 0 0 0 0 0 0 0 24
GeneReviews 3 0 0 0 0 0 0 0 0 20 23
University of Washington Center for Mendelian Genomics, University of Washington 9 4 8 0 0 0 0 0 0 0 21
NIHR Bioresource Rare Diseases, University of Cambridge 5 15 0 0 0 0 0 0 0 0 20
Rare Disease Genomics Group, St George's University of London 20 0 0 0 0 0 0 0 0 0 20
Stankiewicz Research Laboratory, Baylor College of Medicine 18 0 0 0 0 0 0 0 0 0 18
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 0 14 0 0 0 0 0 0 0 17
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 8 7 1 0 0 0 0 0 0 0 16
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 11 1 0 0 0 0 0 0 0 14
Genetics and Molecular Pathology, SA Pathology 4 2 7 1 0 0 0 0 0 0 14
Dr Mariam's Lab, University of the Punjab 2 11 1 0 0 0 0 0 0 0 14
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 3 10 0 0 0 0 0 0 0 13
Myriad Genetics, Inc. 0 9 4 0 0 0 0 0 0 0 13
3billion 6 3 2 2 0 0 0 0 0 0 13
Genetic Services Laboratory, University of Chicago 9 3 0 0 0 0 0 0 0 0 12
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 2 2 8 0 0 0 0 0 0 0 12
Salgia Laboratory, City of Hope 6 0 6 0 0 0 0 0 0 0 12
Counsyl 6 4 1 0 0 0 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 5 0 0 0 0 0 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 6 0 0 0 0 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 6 0 0 0 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 6 2 0 0 1 0 0 0 0 0 9
Center for Personalized Medicine, Children's Hospital Los Angeles 2 1 6 0 0 0 0 0 0 0 9
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 2 6 0 0 0 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 9 9
Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg 1 8 0 0 0 0 0 0 0 0 9
Institute of Human Genetics, Cologne University 1 2 5 0 0 0 0 0 0 0 8
Degerman lab, Umeå University 5 2 1 0 0 0 0 0 0 0 8
Godley laboratory, The University of Chicago 2 5 1 0 0 0 0 0 0 0 8
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 4 0 4 0 0 0 0 0 0 0 8
Centogene AG - the Rare Disease Company 6 0 1 0 0 0 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 0 1 0 0 0 0 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 0 2 3 0 2 0 0 0 0 0 7
Tuberous sclerosis database (TSC1) 0 0 0 0 0 0 0 0 0 6 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 4 0 0 0 0 0 0 0 0 6
New York Genome Center 2 1 3 0 0 0 0 0 0 0 6
MGZ Medical Genetics Center 0 1 4 0 0 0 0 0 0 0 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 5 0 0 0 0 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 1 4 0 0 0 0 0 0 0 0 5
Clinical Genetics, Erasmus University Medical Center 3 2 0 0 0 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 1 0 0 0 0 0 0 0 5
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 3 1 0 0 0 0 0 0 0 5
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 4 1 0 0 0 0 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 2 0 0 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 0 0 0 0 0 0 0 4
Research Unit of Respiratory Disease, The Second Xiangya Hospital of Central South University 0 1 3 0 0 0 0 0 0 0 4
Kong Lab, Department of Radiation Oncology, Case Western Reserve University School of Medicine 0 0 0 0 0 0 4 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 1 3 0 0 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 3 0 0 0 0 0 0 0 4
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 3 0 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 0 0 3
Thoracic and Gastrointestinal Oncology Branch/CCR/NCI, NIH 1 2 0 0 0 0 0 0 0 0 3
Undiagnosed Diseases Network, NIH 0 2 1 0 0 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 3 0 0 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 0 0 0 0 0 0 0 0 3
Center of Medical Genetics, Central South University 2 1 0 0 0 0 0 0 0 0 3
3DMed Clinical Laboratory Inc 2 0 1 0 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 2 0 0 0 0 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 3 0 0 0 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 0 0 0 0 0 0 0 0 3
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 3 0 0 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 2 0 1 0 0 0 0 0 0 0 3
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 2 0 0 0 0 0 0 0 3
DASA 1 2 0 0 0 0 0 0 0 0 3
Brain and Mitochondrial Research, Murdoch Children's Research Insitute 2 1 0 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 0 2 0 0 0 0 0 0 0 2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 2 0 0 0 0 0 0 0 0 0 2
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 2 0 0 0 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 0 0 2
Institut IMAGINE, Institut National de la Sante et de la Recherche Medicale 2 0 0 0 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 0 0 0 0 2
Laboratory of Jean-Laurent Casanova, The Rockefeller University 2 0 0 0 0 0 0 0 0 0 2
Antonellis Laboratory at Michigan, University of Michigan 0 2 0 0 0 0 0 0 0 0 2
Genomic Medicine Laboratory, University of Vermont Medical Center 2 0 0 0 0 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 0 0 0 0 2
University Health Network, Princess Margaret Cancer Centre 1 0 1 0 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 1 0 1 0 0 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, University of Rochester Medical Center 2 0 0 0 0 0 0 0 0 0 2
Epi-/Genome lab, Department of Hematology, Rigshospitalet 1 1 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 0 1 0 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 0 0 0 0 0 0 0 0 0 1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 1 0 0 0 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 0 0 1
Laboratorio de Medicina Genomica, Hospital General de Culiacan 1 0 0 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 0 0 1
Department of Molecular and Medical Genetics, Osaka Medical Center for Cancer and Cardiovascular Diseases 0 1 0 0 0 0 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center 0 1 0 0 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 0 0 0 1
Thoracic Oncology Service, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 0 0 0 1
Genoks Genetic Disorders Diagnostic Laboratory 0 1 0 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 0 0 1
Department of Medical Oncology, City of Hope 1 0 0 0 0 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 1 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 0 0 0 0 1
UF D’onco_angiogenetique Et Genomique Des Tumeurs Solides, APHP Sorbonne Universite Hopital Pitie Salpetriere 0 0 1 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Maanshan College 1 0 0 0 0 0 0 0 0 0 1
Biotechnology, Institute of Science, Nirma University 0 0 1 0 0 0 0 0 0 0 1
BioPath Innovations S.A. 0 0 1 0 0 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 0 0 0 0 1

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