ClinVar Miner

Variants studied for Hereditary cancer-predisposing syndrome

Coded as:
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 risk factor total
5530 1391 22767 15213 1487 1 44653

Gene and significance breakdown #

Total genes and gene combinations: 115
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
BRCA2 1006 97 2645 1552 269 0 5207
BRCA1 682 100 1342 1043 169 0 3137
APC 237 34 1546 847 71 1 2643
ATM 288 76 1368 877 75 0 2560
MSH6 302 59 1288 754 54 0 2357
MSH2 289 58 930 493 39 0 1731
NF1 180 41 874 517 21 0 1632
PALB2 270 44 864 486 38 0 1614
ATM, C11orf65 171 59 818 433 24 0 1461
BRIP1 110 40 781 439 23 0 1341
RAD50 123 34 753 308 21 0 1210
PMS2 111 29 652 408 46 0 1168
MLH1 152 58 555 381 44 0 1139
CDH1 76 21 612 442 31 0 1127
BARD1 89 17 667 350 27 0 1116
CHEK2 96 59 582 263 8 0 979
NBN 74 22 510 330 27 0 919
TP53 123 115 320 315 26 0 857
SMARCA4 4 0 368 379 18 0 769
MUTYH 57 33 426 264 17 0 761
STK11 54 15 308 354 16 0 719
PTEN 151 53 214 214 9 0 636
POLE 2 0 217 407 27 0 634
MRE11 36 21 391 172 12 0 620
TSC2 24 4 256 290 38 0 611
BAP1 18 5 256 299 18 0 582
RAD51C 38 32 304 173 9 0 538
DICER1 89 3 207 176 10 0 485
RAD51D, RAD51L3-RFFL 35 21 257 180 10 0 484
BMPR1A 50 14 253 173 13 0 483
POLD1 2 0 163 270 24 0 442
SMAD4 33 5 144 192 6 0 376
CDKN2A 31 23 173 69 14 0 291
RET 17 1 144 99 15 0 274
MEN1 79 32 61 55 4 0 230
PTCH1 31 7 73 85 21 0 217
TSC1 11 1 99 86 18 0 215
SDHA 17 11 98 63 25 0 214
FLCN 58 3 76 56 4 0 197
MET 3 0 112 68 13 0 194
RAD50, TH2-LCR, TH2LCRR 12 11 100 44 4 0 168
RB1 88 20 37 21 2 0 168
FH 32 32 70 26 6 0 166
BLM 9 1 78 65 10 0 161
SDHB 52 25 50 28 6 0 161
CTNNA1 0 1 1 97 0 0 99
GALNT12 0 0 46 38 7 0 91
CDK4 1 0 53 33 1 0 87
HOXB13 0 1 59 22 2 0 84
VHL 19 9 31 18 3 0 80
SDHD 20 11 25 10 4 0 70
LOC107303340, VHL 26 11 18 11 0 0 65
RAD50, TH2LCRR 3 1 41 15 3 0 59
TMEM127 5 1 27 20 2 0 55
ALK 0 0 17 11 23 0 51
CDK4, TSPAN31 0 0 31 15 1 0 47
POT1 0 0 26 15 5 0 46
SDHC 9 8 17 11 1 0 46
AIP 0 0 22 14 5 0 41
AOPEP, FANCC 2 1 19 15 4 0 41
NF2 0 0 18 19 2 0 39
LOC100507346, PTCH1 6 0 11 16 5 0 38
SDHAF2 1 2 21 12 0 0 36
XRCC2 2 1 13 19 2 0 36
CDKN1B 0 0 20 12 3 0 35
MUTYH, TOE1 1 1 22 10 1 0 35
KLLN, PTEN 0 0 32 0 1 0 33
SUFU 0 0 16 11 5 0 32
MAX 4 1 17 8 0 0 30
ATR 0 0 3 25 1 0 29
FANCC 3 0 12 10 3 0 27
EPCAM 0 0 6 16 5 0 26
SMARCB1 1 0 9 14 2 0 26
RECQL 2 2 19 2 0 0 25
SMARCE1 1 0 11 13 0 0 25
PRKAR1A 0 0 6 14 2 0 22
PIK3CA 0 0 8 13 0 0 21
PHOX2B 0 0 6 9 3 0 18
RAD51B 0 1 10 7 0 0 18
GEN1 0 0 2 15 0 0 17
ABRAXAS1 1 0 3 11 0 0 15
PPM1D 0 0 0 14 0 0 14
NBN, OSGIN2 0 1 6 4 0 0 10
LOC111811965, NF1 2 0 5 2 0 0 9
BRCC3 0 0 0 8 0 0 8
LOC110011216, PHOX2B 0 0 0 6 2 0 8
AXIN2 0 0 1 2 3 0 6
CHEK1 0 0 2 4 0 0 6
LOC100506321, MAX 2 1 1 1 0 0 5
PYROXD1, RECQL 0 0 5 0 0 0 5
BRIP1, LOC110120932 0 0 0 4 0 0 4
GREM1 0 0 1 3 0 0 4
LOC106736614, RET 0 0 4 0 0 0 4
BRCA1, LOC110485084, LOC111589216 0 0 0 3 0 0 3
BRCA2, LOC106721785 0 0 2 1 0 0 3
BRCA1, LOC111589215 0 0 0 2 0 0 2
CTNNA1, LOC105379194 0 0 0 2 0 0 2
CTNNA1, LRRTM2 0 0 0 2 0 0 2
EPCAM, MSH2 2 0 0 0 0 0 2
FAM20A, PRKAR1A 0 0 0 2 0 0 2
ABLIM3, ACSL6, ADAMTS19, ADGRV1, ADRB2, AFAP1L1, AFF4, ALDH7A1, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGEF37, ARL14EPL, ARRDC3, ARSI, ARSK, ATG12, ATOX1, BRD8, C5orf15, C5orf24, C5orf30, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CAST, CATSPER3, CCDC112, CCDC69, CCNH, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDO1, CDX1, CEP120, CETN3, CHD1, CHSY3, COMMD10, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTXN3, CXCL14, CXXC5, CYSTM1, DCANP1, DCP2, DCTN4, DDX46, DELE1, DIAPH1, DMXL1, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, ELL2, EPB41L4A, ERAP1, ERAP2, ETF1, FAM114A2, FAM13B, FAM170A, FAM172A, FAM174A, FAM53C, FAM81B, FAT2, FBN2, FBXL17, FBXO38, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, FTMT, G3BP1, GALNT10, GDF9, GFRA3, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GPR150, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRXCR2, H2AFY, HAND1, HARS, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRGM, ISOC1, JADE2, JAKMIP2, KCNN2, KCTD16, KDM3B, KIAA0825, KIF20A, KIF3A, KLHL3, LARS, LEAP2, LECT2, LIX1, LMNB1, LNPEP, LOX, LRRTM2, LUCAT1, LVRN, LYRM7, LYSMD3, MAN2A1, MARCH3, MATR3, MBLAC2, MCC, MCTP1, MEF2C, MEGF10, MFAP3, MINAR2, MIR143, MIR145, MIR378A, MIR9-2, MYOT, MYOZ3, MZB1, NDFIP1, NDST1, NDUFA2, NEUROG1, NME5, NMUR2, NR2F1, NR3C1, NREP, NRG2, NUDT12, P4HA2, PAIP2, PAM, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PJA2, PKD2L2, PLAC8L1, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PRDM6, PRELID2, PROB1, PRR16, PRRC1, PSD2, PURA, RAD50, RAPGEF6, RASA1, RBM22, RBM27, REEP2, REEP5, RELL2, RFESD, RGMB, RHOBTB3, RIOK2, RNF14, RPS14, SAP30L, SAR1B, SCGB3A2, SEC24A, SEMA6A, SEPTIN8, SH3RF2, SH3TC2, SHROOM1, SIL1, SKP1, SLC12A2, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SLCO4C1, SLCO6A1, SLF1, SMAD5, SMIM3, SNCAIP, SNHG4, SNX2, SNX24, SOWAHA, SPARC, SPATA24, SPATA9, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SRA1, SRFBP1, SRP19, ST8SIA4, STARD4, STK32A, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TEX43, TGFBI, TICAM2, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM161B, TMEM173, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TSLP, TSSK1B, TTC37, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF608 1 0 0 0 0 0 1
BRCA1, LOC110485084 0 0 0 1 0 0 1
CBR4, PALLD 0 0 0 0 1 0 1
ERCC4 0 0 0 1 0 0 1
HFE 1 0 0 0 0 0 1
KIF1B 0 0 0 0 1 0 1
LOC110006317, LOC110006318, STK11 1 0 0 0 0 0 1
MITF 1 1 0 0 0 0 1
MPZ, SDHC 0 0 0 0 1 0 1
MSR1 1 0 0 0 0 0 1
PDGFRA 0 0 0 1 0 0 1
PRSS1, TRB 0 0 0 1 0 0 1
RECQL4 0 0 0 0 1 0 1
SLX4 0 0 0 1 0 0 1
TP53, WRAP53 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Ambry Genetics 4810 1102 17271 9482 951 0 33616
Color 1545 338 9256 7347 827 0 19311
Invitae 95 32 664 266 27 0 1084
University of Washington Department of Laboratory Medicine,University of Washington 39 15 34 693 0 0 781
True Health Diagnostics 23 5 142 373 45 1 589
GeneKor MSA 60 25 407 17 0 1 510
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 16 1 34 98 0 0 149
Vantari Genetics 7 0 17 34 58 0 116
Mendelics 20 9 81 5 0 0 115
GeneDx 41 1 9 2 51 0 104
Illumina Clinical Services Laboratory,Illumina 0 0 9 23 3 0 35
Department of Molecular Diagnostics,Institute of Oncology 1 11 0 0 0 0 12
Integrated Genetics/Laboratory Corporation of America 4 6 0 0 0 0 10
GeneID Lab - Advanced Molecular Diagnostics 0 1 4 0 0 0 5
Clinical Molecular Diagnostic Laboratory,City of Hope National Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Lab,GoPath Laboratories 1 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 1 0 0 0 1
Cure Brain Cancer Foundation Neuro-Oncology Group, Adult Cancer Program,University of New South Wales 0 1 0 0 0 0 1

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