ClinVar Miner

Variants studied for malignant endocrine neoplasm

Included ClinVar conditions (87):
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 likely risk allele risk factor other not provided total
718 341 4716 3269 214 2 1 16 25 9010

Gene and significance breakdown #

Total genes and gene combinations: 132
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor other not provided total
RET 89 31 1687 1271 83 0 0 0 7 3014
SDHA 175 96 1323 891 57 0 0 0 9 2487
CDC73 99 22 613 649 41 0 0 0 6 1408
SDHB 178 71 547 353 20 0 0 0 1 1134
TP53 61 60 86 5 2 0 0 0 0 205
APC 23 7 154 10 3 0 0 0 0 197
LOC129929542, SDHB 6 1 28 29 0 0 0 0 0 64
SDHAF2 4 12 43 4 1 0 0 0 2 64
MET 3 0 56 1 0 0 0 0 0 60
LOC106736614, RET 0 0 31 10 0 0 0 0 0 40
RB1 6 0 20 1 0 0 0 0 0 27
HRAS, LRRC56 7 2 12 4 0 0 0 0 0 24
PIK3CA 5 0 16 0 0 0 0 0 0 21
LOC130003710, RET 0 0 4 14 0 0 0 0 0 17
NTRK1 2 1 14 0 0 0 0 0 0 17
LOC129929541, SDHB 3 0 2 9 0 0 0 0 0 14
CTNNB1, LOC126806658 6 1 0 1 0 0 0 2 0 8
DROSHA 7 0 1 0 0 0 0 0 0 8
B3GALT2, CDC73 2 0 4 0 0 0 0 0 0 6
CTNNB1, LOC126806659 3 1 1 1 0 0 0 0 0 6
DICER1 6 0 0 0 0 0 0 0 0 6
SRGAP1 2 0 2 1 0 0 1 0 0 6
AXIN1 1 0 2 2 0 0 0 0 0 5
CTNNB1 2 0 0 3 0 0 0 0 0 5
HABP2 0 0 3 2 0 0 0 0 0 5
TERT 3 0 2 0 0 0 0 0 0 5
FOXE1 1 1 1 1 0 0 0 0 0 4
LOC110121502, MCS+9.7, RET 0 0 0 1 3 0 0 0 0 4
LOC129929541, LOC129929542, SDHB 2 0 2 0 0 0 0 0 0 4
PKD1 0 0 1 2 1 0 0 0 0 4
ATM, C11orf65 0 0 3 0 0 0 0 0 0 3
CASP8 1 0 1 1 0 0 0 0 0 3
DOCK8 0 0 3 0 0 0 0 0 0 3
IGF2R 2 0 1 0 0 0 0 0 0 3
INSRR, NTRK1 0 0 3 0 0 0 0 0 0 3
LOC130064074, NDUFA13 1 2 0 0 0 0 0 0 0 3
NKX2-1, SFTA3 1 1 1 0 0 0 0 0 0 3
RAD50 0 3 0 0 0 0 0 0 0 3
VDR 0 1 0 0 0 2 0 0 0 3
ATM 0 0 1 0 1 0 0 0 0 2
B3GALT2, CDC73, LOC129932147, MIR1278 1 0 1 0 0 0 0 0 0 2
BARD1 0 1 1 0 0 0 0 0 0 2
BRAF 2 0 0 0 0 0 0 0 0 2
BRCA2 0 1 1 0 0 0 0 0 0 2
CDC73, LOC129932147 0 1 1 0 0 0 0 0 0 2
COL7A1 0 1 1 0 0 0 0 0 0 2
DHCR7 0 1 1 0 0 0 0 0 0 2
FANCM 0 0 2 0 0 0 0 0 0 2
FH 0 1 1 0 0 0 0 0 0 2
GLI3 0 0 2 0 0 0 0 0 0 2
IGF2R, LOC129997612 0 1 1 0 0 0 0 0 0 2
LOC106736614, LOC110121502, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, MCS+9.7, RET 0 0 2 0 0 0 0 0 0 2
LOC129929542, LOC129929543, SDHB 2 0 0 0 0 0 0 0 0 2
MINPP1 2 0 0 0 0 0 0 0 0 2
MSH2 0 1 1 0 0 0 0 0 0 2
NRAS 1 0 1 0 0 0 0 0 0 2
PALB2 0 0 2 0 0 0 0 0 0 2
PMS2 0 2 0 0 0 0 0 0 0 2
PTEN 1 0 1 0 0 0 0 0 0 2
RINT1 0 2 0 0 0 0 0 0 0 2
STK11 0 0 1 1 0 0 0 0 0 2
VHL 0 1 1 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 0 1
ABCB10, ABL2, ACBD3, ACBD6, ACKR1, ACP6, ACTA1, ACTN2, ADAM15, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, BGLAP, BLZF1, BNIPL, BOLA1, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf105, C1orf115, C1orf116, C1orf198, C1orf21, C1orf226, C1orf35, C1orf43, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN8, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DYRK3, ECM1, EDARADD, EDEM3, EFCAB2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, ELF3, ELK4, ENAH, ENSA, ENTREP3, EPHX1, EPRS1, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FSAF1, G0S2, GABPB2, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, GLUL, GNG4, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IGFN1, IGSF8, IGSF9, IKBKE, IL10, IL19, IL20, IL24, IL6R, ILDR2, ILF2, INAVA, INSRR, INTS3, INTS7, IPO9, IQGAP3, IRF2BP2, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LGALS8, LGR6, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LIX1L, LMNA, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LPGAT1, LRRC52, LRRC71, LRRN2, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, MRPS21, MSTO1, MT1HL1, MTARC1, MTARC2, MTMR11, MTR, MTX1, MUC1, MYBPH, MYOC, MYOG, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NCF2, NCSTN, NDUFS2, NECTIN4, NEK2, NEK7, NENF, NES, NFASC, NHLH1, NIBAN1, NID1, NIT1, NLRP3, NME7, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PACC1, PAPPA2, PAQR6, PARP1, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PDE4DIP, PDZK1, PEA15, PEAR1, PEX11B, PEX19, PFDN2, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PI4KB, PIAS3, PIGC, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, PTPN7, PTPRC, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3GAP2, RAB4A, RABGAP1L, RABIF, RALGPS2, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCCPDH, SCNM1, SCYL3, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SERTAD4, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNRPE, SNX27, SOAT1, SOX13, SPATA17, SPATA45, SPATA46, SPHAR, SPMIP3, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TMEM63A, TMEM79, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18, ZBTB37, ZBTB41, ZBTB7B, ZC3H11A, ZNF124, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, ZNF687, ZNF695, ZP4 0 0 1 0 0 0 0 0 0 1
ALK 0 0 0 1 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 1
APC, LOC129994371 0 0 1 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 0 0 1 0 1
B3GALT2, CDC73, GLRX2, LINC01031, LINC02770, LOC111556116, LOC120893169, LOC122149332, LOC122149333, LOC122149334, LOC126805961, LOC126805962, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC132088601, LOC132088602, LOC132090670, MIR1278, MIR4426, RGS1, RGS13, RGS18, RGS2, RGS21, RO60, SCARNA18B, UCHL5 1 0 0 0 0 0 0 0 0 1
B3GALT2, CDC73, LOC129932147 0 0 1 0 0 0 0 0 0 1
BIVM-ERCC5, ERCC5 0 1 0 0 0 0 0 0 0 1
CDKN2A 0 0 0 0 1 0 0 0 0 1
CHEK2 0 0 1 0 0 0 0 0 0 1
CXCL8 0 0 0 0 0 0 0 1 0 1
CXCR1 0 0 0 0 0 0 0 1 0 1
DIS3L2 0 0 1 0 0 0 0 0 0 1
EGF 0 0 0 0 0 0 0 1 0 1
EGFR 0 0 0 0 0 0 0 1 0 1
EP300 0 0 1 0 0 0 0 0 0 1
ERCC2 0 1 0 0 0 0 0 0 0 1
EXT2 0 1 0 0 0 0 0 0 0 1
FAH 0 0 1 0 0 0 0 0 0 1
FANCA 0 1 0 0 0 0 0 0 0 1
FANCD2, FANCD2OS 0 0 1 0 0 0 0 0 0 1
FANCD2, LOC107303338 0 0 1 0 0 0 0 0 0 1
FAS 0 0 1 0 0 0 0 0 0 1
FGFR3 0 1 0 0 0 0 0 0 0 1
FLCN 0 0 1 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 0 1
FRMPD1 0 0 1 0 0 0 0 0 0 1
GBA1, LOC106627981 0 1 0 0 0 0 0 0 0 1
HIF1A 0 0 0 0 0 0 0 1 0 1
IL10, IL19 0 0 0 0 0 0 0 1 0 1
IL1B 0 0 0 0 0 0 0 1 0 1
IL6, LOC126859963 0 0 0 0 0 0 0 1 0 1
JAG1 0 1 0 0 0 0 0 0 0 1
JMJD1C 0 0 1 0 0 0 0 0 0 1
KDR 0 0 1 0 0 0 0 0 0 1
KIF1B 0 1 0 0 0 0 0 0 0 1
KRAS 0 1 0 0 0 0 0 0 0 1
LIG4 0 1 0 0 0 0 0 0 0 1
LOC110806263, TERT 0 1 0 0 0 0 0 0 0 1
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 0 1
LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 0 1
LYST 0 1 0 0 0 0 0 0 0 1
MEN1 1 0 0 0 0 0 0 0 0 1
MLH1 0 0 0 0 1 0 0 0 0 1
MN1 0 0 0 0 0 0 0 1 0 1
MSH6 0 0 1 0 0 0 0 0 0 1
MUTYH 0 0 1 0 0 0 0 0 0 1
MYB, NFIB 1 0 0 0 0 0 0 0 0 1
MYBL1, NFIB 1 0 0 0 0 0 0 0 0 1
NBN 0 1 0 0 0 0 0 0 0 1
NDRG4 0 0 1 0 0 0 0 0 0 1
NYNRIN 0 0 1 0 0 0 0 0 0 1
PACERR, PTGS2 0 0 0 0 0 0 0 1 0 1
PCM1 0 0 1 0 0 0 0 0 0 1
PDGFRL 1 0 0 0 0 0 0 0 0 1
POLD1 0 0 0 1 0 0 0 0 0 1
PTGS2 0 0 0 0 0 0 0 1 0 1
RECQL 0 0 1 0 0 0 0 0 0 1
RECQL4 0 1 0 0 0 0 0 0 0 1
REN 0 1 0 0 0 0 0 0 0 1
RHBDF2 0 0 1 0 0 0 0 0 0 1
RPS19 0 0 1 0 0 0 0 0 0 1
SDHD 1 0 0 0 0 0 0 0 0 1
SET 0 0 0 0 0 0 0 1 0 1
SH2B3 0 0 1 0 0 0 0 0 0 1
SLX4 0 0 1 0 0 0 0 0 0 1
TGFBR2 0 0 1 0 0 0 0 0 0 1
VEGFA 0 0 0 0 0 0 0 1 0 1
ZMYND11 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 102
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 510 136 3963 3096 155 0 0 0 0 7859
Fulgent Genetics, Fulgent Genetics 64 36 685 120 8 0 0 0 0 913
All of Us Research Program, National Institutes of Health 12 7 449 219 4 0 0 0 0 691
Myriad Genetics, Inc. 122 53 55 52 19 0 0 0 0 301
Counsyl 9 9 134 58 8 0 0 0 0 218
Baylor Genetics 48 43 125 0 0 0 0 0 0 216
Illumina Laboratory Services, Illumina 1 1 75 9 21 0 0 0 0 107
OMIM 93 0 1 0 0 0 1 0 0 95
KCCC/NGS Laboratory, Kuwait Cancer Control Center 5 3 2 25 54 0 0 0 0 89
Mendelics 6 2 55 14 10 0 0 0 0 87
Color Diagnostics, LLC DBA Color Health 13 7 9 21 27 0 0 0 0 77
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 3 51 2 0 0 0 0 0 59
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 1 14 38 0 0 0 0 0 0 53
Juno Genomics, Hangzhou Juno Genomics, Inc 14 10 0 0 0 0 0 0 0 24
Genetics and Molecular Pathology, SA Pathology 4 1 5 0 9 0 0 0 0 19
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University 0 19 0 0 0 0 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 1 2 0 1 0 0 0 0 17
Center for Human Genetics, Inc, Center for Human Genetics, Inc 11 1 3 0 0 0 0 0 0 15
MGZ Medical Genetics Center 11 2 2 0 0 0 0 0 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 4 3 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 0 7 0 0 0 0 0 0 13
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 7 2 3 1 0 0 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 2 4 0 0 0 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 12 12
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin 0 0 0 0 0 0 0 11 0 11
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 5 5 0 0 0 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 4 1 2 2 0 0 0 0 0 9
Genome-Nilou Lab 1 0 0 0 8 0 0 0 0 9
GeneReviews 0 0 0 0 0 0 0 0 8 8
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 7 1 0 0 0 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 0 0 0 0 0 0 0 0 7
CSER _CC_NCGL, University of Washington 1 0 5 1 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 5 0 2 0 0 0 0 7
3DMed Clinical Laboratory Inc 2 0 5 0 0 0 0 0 0 7
CZECANCA consortium 0 7 0 0 0 0 0 0 0 7
Center for Precision Oncology and Cancer Prevention, Roswell Park Comprehensive Cancer Center 7 0 0 0 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 0 0 0 0 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 0 0 0 0 6
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 0 0 5 0 6
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 2 1 2 0 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 5 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 0 1 0 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 2 0 0 0 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 0 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 0 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 2 0 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 2 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 2 0 0 0 0 0 0 3
Bioengineering and Technology, Gauhati University 0 1 0 0 0 2 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 1 0 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 0 0 2
Genome Sciences Centre, British Columbia Cancer Agency 2 0 0 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 0 0 0 0 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 0 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 0 0 0 2
3billion, Medical Genetics 1 0 1 0 0 0 0 0 0 2
Division of Medical Genetics, Azienda Ospedaliero-Universitaria Policlinico S. Orsola-Malpighi 0 2 0 0 0 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 2 2
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission 0 2 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 2 0 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 0 0 1
Revvity Omics, Revvity 0 1 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 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 1
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals 0 1 0 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 0 0 1
Genomic Medicine Laboratory, University of Vermont Medical Center 1 0 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 0 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 1 0 0 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 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 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 0 0 1

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