ClinVar Miner

Variants studied for combined immunodeficiency

Included ClinVar conditions (109):
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 not provided total
3342 1390 14946 13047 1384 117 32815

Gene and significance breakdown #

Total genes and gene combinations: 188
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATM 1231 394 4070 2396 144 23 7876
ATM, C11orf65 718 250 2499 1370 96 28 4751
PRKDC 3 0 1177 948 97 2 2212
CIITA 62 20 542 932 81 1 1554
JAK3 88 39 367 616 61 2 1110
DCLRE1C 113 93 366 494 35 1 1029
PTPRC 17 16 312 615 45 4 999
CARD11 24 12 363 496 60 1 942
RAG1 122 76 333 289 32 0 787
FOXN1 47 21 309 328 26 0 692
LIG4 79 17 315 245 29 1 660
IKBKB 18 4 176 383 24 0 601
STIM1 17 7 286 211 29 2 545
WAS 101 30 144 235 53 1 545
ADA 93 98 133 249 14 27 511
IL7R 49 16 211 216 55 0 511
RAG2 74 72 205 194 12 1 490
IL2RG 79 47 81 167 35 2 369
RFX5 31 12 220 91 20 0 360
MAP3K14 0 1 163 167 13 0 344
TAP1 17 3 156 151 22 1 343
TAP2 16 4 163 117 41 0 339
MALT1 17 7 142 149 20 0 330
TNFRSF4 1 0 148 111 20 0 278
TAPBP 1 0 161 92 16 0 269
WIPF1 3 0 127 115 14 0 257
CD3E 14 7 79 130 19 0 237
LCK 10 4 76 140 7 0 235
RFXANK 20 11 97 114 8 0 228
CORO1A 8 4 80 121 13 0 223
CTPS1 1 0 95 114 14 0 223
STK4 9 4 88 100 13 0 213
CD3D 12 4 73 92 6 0 185
ORAI1 4 7 98 61 8 1 177
LOC130008987, ORAI1 4 1 114 48 3 1 168
MAGT1 23 9 63 48 21 1 161
AK2 19 10 64 46 12 0 146
CD247 9 1 61 66 11 1 146
NHEJ1 20 6 61 47 8 2 141
RAC2 5 2 50 75 8 0 137
ADA, LOC107303343 12 12 31 71 10 2 129
RFXAP 9 1 66 26 10 0 109
LOC124418421, STIM1 0 0 69 21 2 0 92
LOC126862575, MAP3K14 0 0 40 37 4 0 81
ZAP70 8 2 39 8 12 9 72
CD3G, LOC126861358 7 3 33 28 4 0 71
CD3G 5 4 35 22 6 0 68
LOC107648851, TAP2 2 1 27 23 6 0 59
IL2RG, LOC126863274 11 7 13 17 7 0 48
CORO1A, LOC121587541 1 1 16 25 1 0 44
LOC130062586, MALT1 0 0 23 19 0 0 42
LOC130009573, RFXAP 1 2 26 15 1 1 41
LOC121740717, PRKDC 0 0 27 9 3 0 39
PSMB8, TAP1 1 0 20 13 3 0 37
CARMIL2 11 9 13 4 2 0 34
LOC130068460, MAGT1 1 1 13 12 8 0 34
WRN 0 0 0 6 23 0 29
LOC126806516, NHEJ1 0 0 12 10 3 0 25
LOC129929030, PRKDC 0 0 10 13 1 0 24
CIITA, LOC130058443 1 0 8 13 0 0 22
IKBKB, LOC126860373 0 0 8 12 1 0 21
NR2C2AP, RFXANK 1 1 9 11 3 0 21
AK2, LOC129930068 3 0 9 8 1 0 20
LOC130009575, RFXAP 2 0 10 8 0 0 20
BCL11B 4 1 8 4 0 0 17
CTPS1, LOC126805717 0 0 7 10 0 0 17
ATM, C11orf65, LOC128772356, LOC129390354 7 3 3 0 0 0 13
LOC130000337, PRKDC 0 0 3 7 1 0 11
LOC130009574, RFXAP 2 0 6 2 2 0 11
ATM, C11orf65, LOC129390354 4 3 3 0 0 0 10
CD4 2 0 1 0 7 0 10
LOC130067355, RAC2 0 0 0 7 3 0 10
PIK3CD 2 0 2 2 3 0 9
DOCK8 2 6 0 0 0 0 8
LAT 2 0 2 1 2 0 7
MSN 3 1 3 0 0 0 7
ATM, LOC130006700 0 0 5 0 1 0 6
PGM3 3 3 0 0 0 0 6
GINS1 2 2 2 0 1 0 5
LOC130005165, STIM1 0 0 3 2 0 0 5
LOC130067357, RAC2 0 0 4 1 0 0 5
ALDOA, CORO1A, GDPD3, LOC112694756, LOC121587541, LOC125146441, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, PPP4C, TBX6, YPEL3, YPEL3-DT 2 0 2 0 0 0 4
CIITA, LOC130058442 0 0 3 0 1 0 4
LOC126805858, RFX5 0 0 3 1 0 0 4
MTHFD1 1 3 0 0 0 0 4
PNP 2 2 0 0 0 0 4
ARID1B 2 1 0 0 0 0 3
ATM, C11orf65, LOC128772356, LOC129390352, LOC129390353, LOC129390354 1 0 2 0 0 0 3
CD70 3 0 0 0 0 0 3
DCLRE1C, MEIG1 3 0 0 0 0 0 3
DCLRE1C, SUV39H2 0 0 1 0 1 1 3
GINS1, LOC130065587 2 0 1 0 0 0 3
IFTAP, RAG2 0 0 2 0 1 0 3
LOC126805612, PIK3CD 0 0 2 0 1 0 3
ACAT1, ATM, NPAT 1 0 1 0 0 0 2
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 1 0 0 0 2
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 1 0 1 0 0 0 2
ATM, LOC128772356, LOC129390352, LOC129390353 0 0 2 0 0 0 2
ATP7A, COX7B, MAGT1, PGAM4 1 0 1 0 0 0 2
B3GALT6, SDF4, TNFRSF4 0 0 2 0 0 0 2
BRAF 2 0 0 0 0 0 2
CD27 2 0 0 0 0 0 2
CD3D, CD3G 0 0 1 0 1 0 2
CXorf65, IL2RG 2 0 0 0 0 0 2
DOP1A, PGM3 0 2 0 0 0 0 2
LRBA 1 1 0 0 0 0 2
MCM4, PRKDC 0 0 2 0 0 0 2
MTHFD1, ZBTB25 0 2 0 0 0 0 2
PGAP2, RHOG, STIM1 0 0 2 0 0 0 2
PSMB8, TAP2 1 0 1 0 0 0 2
​intergenic 0 1 0 0 0 0 1
AASDHPPT, ACAT1, ALG9, ALKBH8, AMOTL1, ANGPTL5, ANKRD49, ARHGAP20, ARHGAP42, ATM, BIRC2, BIRC3, BTG4, C11orf52, C11orf65, C11orf87, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CCDC82, CEP126, CEP57, CFAP300, CFAP68, CNTN5, CRYAB, CUL5, CWC15, CWF19L2, DCUN1D5, DDI1, DDX10, DIXDC1, DLAT, DYNC2H1, ELMOD1, ENDOD1, EXPH5, FAM76B, FDX1, FDXACB1, FUT4, GRIA4, GUCY1A2, HOATZ, HSPB2, JRKL, KBTBD3, KDM4D, KDM4E, LAYN, MAML2, MIR34B, MIR34BHG, MIR34C, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MRE11, MSANTD4, MTMR2, NKAPD1, NPAT, PDGFD, PGR, PIH1D2, PIWIL4, POGLUT3, POU2AF1, POU2AF2, POU2AF3, PPP2R1B, RAB39A, RDX, SDHD, SESN3, SIK2, SLC35F2, SLN, SRSF8, TIMM8B, TMEM123, TMEM133, TRPC6, YAP1, ZC3H12C 1 0 0 0 0 0 1
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7 0 0 1 0 0 0 1
ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BCL9L, C1QTNF5, C2CD2L, CBL, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DRC12, DSCAML1, FOXR1, FXYD2, FXYD6, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MCAM, MFRP, MPZL2, MPZL3, NECTIN1, NHERF4, NLRX1, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RNF214, RNF26, RPS25, SC5D, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SORL1, TAGLN, TBCEL, TECTA, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TTC36, UBE4A, UPK2, USP2, VPS11 0 0 1 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 0 0 1 0 0 0 1
ACAT1, ATM, C11orf65, EXPH5, NPAT, POGLUT3 0 0 1 0 0 0 1
ACAT1, ATM, CUL5, NPAT, RAB39A 1 0 0 0 0 0 1
ACD, CARMIL2 0 0 0 0 1 0 1
ACOT8, ADA, CCN5, CD40, CDH22, CTSA, DBNDD2, DNTTIP1, ELMO2, EPPIN, EPPIN-WFDC6, FITM2, GDAP1L1, GTSF1L, HNF4A, IFT52, JPH2, KCNK15, KCNS1, MATN4, MMP9, MYBL2, NCOA5, NEURL2, OCSTAMP, OSER1, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLTP, R3HDML, RBPJL, RIMS4, SDC4, SEMG1, SEMG2, SERINC3, SLC12A5, SLC13A3, SLC2A10, SLC35C2, SLPI, SNX21, SPATA25, SPINT3, SPINT4, STK4, SYS1, TNNC2, TOMM34, TOX2, TP53RK, TP53TG5, TTPAL, UBE2C, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZNF334, ZNF335, ZNF840P, ZSWIM1, ZSWIM3 1 0 0 0 0 0 1
ACOT8, ADA, CCN5, CTSA, DBNDD2, DNTTIP1, EPPIN, EPPIN-WFDC6, FITM2, GDAP1L1, GTSF1L, HNF4A, IFT52, JPH2, KCNK15, KCNS1, MATN4, MMP9, MYBL2, NEURL2, OSER1, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLTP, R3HDML, RBPJL, RIMS4, SDC4, SEMG1, SEMG2, SERINC3, SLPI, SNX21, SPATA25, SPINT3, SPINT4, STK4, SYS1, TNNC2, TOMM34, TOX2, TP53TG5, TTPAL, UBE2C, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZNF335, ZSWIM1, ZSWIM3 1 0 0 0 0 0 1
ADA, LOC107303343, LOC108167311, LOC108167312 1 0 0 0 0 0 1
ADAM15, ADAMTSL4, ADAR, ANP32E, ANXA9, APH1A, AQP10, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BGLAP, BNIPL, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, FALEC, FDPS, FLAD1, FLG, FLG2, GABPB2, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, IVL, JTB, KCNN3, KHDC4, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LMNA, LOC101928034, LORICRIN, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NES, NPR1, NTRK1, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PGLYRP3, PGLYRP4, PI4KB, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, PRCC, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RFX5, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SSR2, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRIM46, TSACC, TTC24, TUFT1, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687 0 0 1 0 0 0 1
ADAR 0 0 1 0 0 0 1
ADCY10, CD247, CREG1, DCAF6, GPR161, MPC2, MPZL1, RCSD1, SFT2D2, TBX19, TIPRL 0 0 1 0 0 0 1
AGRN, B3GALT6, C1orf159, MIR200A, MIR200B, MIR429, RNF223, SDF4, TNFRSF18, TNFRSF4, TTLL10 0 0 1 0 0 0 1
AKAP4, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CLCN5, DGKK, EBP, ERAS, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, MIR502, MIR532, NUDT10, NUDT11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SHROOM4, SLC35A2, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, USP27X, WAS, WDR13, WDR45 0 0 1 0 0 0 1
ALG5, EXOSC8, RFXAP, SMAD9 1 0 0 0 0 0 1
ALPK2, ATP8B1, CCBE1, CPLX4, FECH, GRP, LMAN1, MALT1, MC4R, MIR122, NARS1, NEDD4L, PMAIP1, RAX, SEC11C, ZNF532 0 0 1 0 0 0 1
AMZ1, BRAT1, CARD11, GNA12, IQCE, LFNG, TTYH3 1 0 0 0 0 0 1
AMZ1, BRAT1, CARD11, GNA12, IQCE, TTYH3 0 0 1 0 0 0 1
ANK1, AP3M2, CHRNA6, CHRNB3, DKK4, IKBKB, KAT6A, PLAT, POLB, SLC20A2, SMIM19, THAP1, VDAC3 0 0 1 0 0 0 1
AP3M2, IKBKB, KAT6A, PLAT 0 0 1 0 0 0 1
ARAF, CDK16, CFP, EBP, ELK1, FTSJ1, INE1, JADE3, LINC01560, NDUFB11, PORCN, RBM10, RBM3, RGN, RP2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SYN1, TBC1D25, TIMP1, UBA1, USP11, UXT, WAS, WDR13, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 1 0 0 0 0 0 1
ARPC1B 1 0 0 0 0 0 1
ARPC1B, LOC113748420, LOC129998866, LOC129998867 1 0 0 0 0 0 1
ATM, C11orf65, LOC128772356, LOC129390352, LOC129390353, LOC129390354, LOC130006700, LOC130006701, LOC130006702, LOC130006703 1 0 0 0 0 0 1
ATM, C11orf65, POGLUT3 0 0 1 0 0 0 1
ATM, LOC128772354, LOC130006698, NPAT 1 0 0 0 0 0 1
ATM, LOC128772356 1 0 0 0 0 0 1
ATM, LOC129390352, LOC129390353 0 0 1 0 0 0 1
ATM, NPAT 1 0 0 0 0 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATRX, MAGT1 0 0 1 0 0 0 1
B3GALT4, COL11A2, CUTA, DAXX, HSD17B8, KIFC1, MIR219A1, PFDN6, PHF1, RGL2, RING1, RPS18, RXRB, SLC39A7, SYNGAP1, TAPBP, VPS52, WDR46, ZBTB22 0 0 1 0 0 0 1
BOLA2, CORO1A 0 0 0 0 1 0 1
BOLA2B, CORO1A, SLX1A, SULT1A3 0 0 1 0 0 0 1
CACNA1A 0 0 1 0 0 0 1
CAMK4 0 0 1 0 0 0 1
CARD11, LOC129997847 0 0 1 0 0 0 1
CHRNA1, WIPF1 0 0 1 0 0 0 1
CHRNA6, CHRNB3, DKK4, FNTA, HGSNAT, HOOK3, IKBKB, POLB, POMK, RNF170, SLC20A2, SMIM19, THAP1, VDAC3 0 0 1 0 0 0 1
CIITA, CLEC16A, DEXI, LITAF, PRM1, PRM2, PRM3, RMI2, SOCS1, TNP2 1 0 0 0 0 0 1
CIITA, EMP2, NUBP1, TEKT5, TVP23A 1 0 0 0 0 0 1
CLXN, MCM4, PRKDC, SNAI2, UBE2V2 0 0 1 0 0 0 1
COL6A2 0 0 1 0 0 0 1
COX7B, MAGT1 0 0 1 0 0 0 1
CTPS1, SCMH1, SLFNL1 0 0 1 0 0 0 1
DCLRE1C, LOC130003417 1 0 0 0 0 0 1
DCLRE1C, LOC130003418, MEIG1 1 0 0 0 0 0 1
GJB1, IL2RG, ITGB1BP2, MED12, NLGN3, NONO, TAF1, ZMYM3 0 0 1 0 0 0 1
HPD, MORN3, ORAI1, RHOF, SETD1B, TMEM120B 1 0 0 0 0 0 1
ICOSLG 0 1 0 0 0 0 1
IFTAP, RAG1, RAG2 1 0 0 0 0 0 1
IL7R, LOC129993794 1 0 0 0 0 0 1
INPP5D 0 0 1 0 0 0 1
INSL3, JAK3, RPL18A, SLC5A5 0 0 1 0 0 0 1
KDM2B 0 0 1 0 0 0 1
KIF7 0 0 1 0 0 0 1
KNSTRN 1 0 0 0 0 0 1
LAT, LOC130058751 1 0 0 0 0 0 1
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1 1 0 0 0 0 0 1
LOC126860342, WRN 0 0 0 0 1 0 1
LOC126861898, MYH7 0 1 0 0 0 0 1
LOC129929100, TNFRSF4 0 0 1 0 0 0 1
LOC129935136, WIPF1 0 0 1 0 0 0 1
LOC130055307, TRA, TRAC 1 0 0 0 0 0 1
MCFD2, TTC7A 0 1 0 0 0 0 1
MSH2 0 0 0 0 0 1 1
MYOC 0 1 0 0 0 0 1
PLAA 0 1 0 0 0 0 1
POLD1 0 1 0 0 0 0 1
SCNN1A 0 0 1 0 0 0 1
STAT1 1 0 0 0 0 0 1
TFRC 1 0 0 0 0 0 1
TTC7A 1 0 0 0 0 0 1
TXNDC15 0 0 1 0 0 0 1
VDAC2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 166
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2974 587 13504 12738 1110 0 30913
Natera, Inc. 132 24 1420 154 94 0 1824
Illumina Laboratory Services, Illumina 3 7 989 130 270 0 1398
Counsyl 47 243 182 52 8 0 532
Fulgent Genetics, Fulgent Genetics 66 32 261 67 19 0 445
Baylor Genetics 125 175 106 1 0 0 407
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 223 163 4 5 8 0 403
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 83 68 151 45 40 0 387
Mendelics 44 16 169 62 60 0 351
OMIM 281 0 4 0 0 0 285
Genome-Nilou Lab 29 17 68 18 131 0 263
Revvity Omics, Revvity 62 25 69 0 0 0 156
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 9 5 113 5 1 0 133
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 29 21 36 2 2 0 90
3billion 35 16 8 9 0 0 68
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 63 63
Neuberg Centre For Genomic Medicine, NCGM 10 15 26 0 0 0 51
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 1 0 13 33 0 49
GeneReviews 13 0 0 0 0 18 31
UniProtKB/Swiss-Prot 0 0 0 0 0 29 29
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer 0 14 10 1 1 0 26
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 22 2 0 0 26
Myriad Genetics, Inc. 1 23 1 0 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 2 4 1 0 0 24
New York Genome Center 0 0 24 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 6 5 9 0 22
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 16 2 0 19
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 13 0 19
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 8 10 0 0 0 0 18
Institute of Human Genetics, University of Leipzig Medical Center 4 7 6 1 0 0 18
Juno Genomics, Hangzhou Juno Genomics, Inc 7 10 1 0 0 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 12 2 0 18
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 6 5 1 0 0 18
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 10 3 1 0 0 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 4 1 0 0 0 14
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 10 3 0 0 0 0 13
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 11 1 1 0 0 0 13
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 12 1 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 5 4 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 6 0 0 0 0 11
Genomics Facility, Ludwig-Maximilians-Universität München 4 7 0 0 0 0 11
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences 9 2 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 7 1 0 0 10
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 3 1 0 0 0 9
Center for Personalized Medicine, Children's Hospital Los Angeles 1 4 4 0 0 0 9
MGZ Medical Genetics Center 4 3 1 0 0 0 8
SIB Swiss Institute of Bioinformatics 1 5 1 0 1 0 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 1 3 0 0 0 8
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 6 1 0 0 8
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 2 2 4 0 0 0 8
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 5 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 5 0 2 0 0 0 7
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 5 2 0 0 0 0 7
DASA 5 2 0 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 4 1 2 0 0 0 7
Centogene AG - the Rare Disease Company 2 3 1 0 0 0 6
Center for Molecular Medicine, Children’s Hospital of Fudan University 4 2 0 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 2 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 4 1 1 0 0 0 6
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 5 1 0 0 0 0 6
Pars Genome Lab 1 1 1 3 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 0 4 0 0 0 5
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 0 3 0 0 0 5
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 3 0 0 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 5 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 1 1 0 5
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 3 2 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Puck Laboratory, University of California, San Francisco 4 0 0 0 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 1 1 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 1 1 0 0 0 4
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 2 1 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 1 0 0 0 0 4
San Raffaele Telethon Institute for Gene Therapy, San Raffaele Hospital 4 0 0 0 0 0 4
Lifecell International Pvt. Ltd 2 2 0 0 0 0 4
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited 0 0 2 0 2 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 1 0 0 0 0 3
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 1 1 0 0 0 3
Klein lab, Ludwig-Maximilians-University 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Undiagnosed Diseases Network, NIH 1 0 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 1 0 0 0 3
van Oers lab, UT Southwestern Medical Center 2 1 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 0 0 0 0 3
Suma Genomics 1 2 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 1 2 0 0 0 3
Cowan and Puck Lab, Allergy Immunology and BMT Division, UCSF Benioff Children's Hospital 3 0 0 0 0 0 3
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 1 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Department of Immunology, School of Medicine, Complutense University 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 2 0 0 2
Center for Individualized Medicine, Mayo Clinic 1 1 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 2 0 0 0 0 0 2
Manipal Hospitals, Manipal Hospital 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 0 0 0 0 2
Pediatric Genomics Discovery Program, Yale University 1 1 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 1 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 2
Neil Romberg Laboratory, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 0 1 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Eurofins-Biomnis 0 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 2 0 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Servicio inmunologia, Hospital 12 de Octubre 1 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
Geha Laboratory, Boston Childrens Hospital 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 1 0 0 0 0 0 1
Sidra Medicine 0 1 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 1
Immunogenetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Immunology Clinic, Ucla 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Neurology, Jichi Medical University 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 0 1
NxGen MDx 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
MAGIC Laboratory, Stellenbosch University 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 1 0 0 0 0 0 1
School of Computer Science, University of Waterloo 0 1 0 0 0 0 1
Genetica Medica Policlinico Modena, Policlinico di Modena 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Massaad Lab, American University of Beirut 1 0 0 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 0 1
Unidad de Medicina Traslacional, Hospital de Ninos Ricardo Gutierrez 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1
Pediatric Intensive Care Unit, Hunan Children's Hospital 0 0 1 0 0 0 1
COMBGENE, University of Calgary 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 1
Solve-RD Consortium 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1

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