ClinVar Miner

Variants with conflicting interpretations between GeneDx and Fulgent Genetics, Fulgent Genetics

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
14533 897 0 137 28 0 15 180

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 29 1 0 0
likely pathogenic 14 0 9 0 0
uncertain significance 2 3 0 8 2
likely benign 0 0 17 0 11
benign 0 0 1 83 0

All variants with conflicting interpretations #

Total variants: 180
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_000125.4(ESR1):c.1782G>A (p.Thr594=) rs2228480 0.17850
NM_139281.3(WDR36):c.1717-20T>A rs59359951 0.10369
NM_001846.4(COL4A2):c.549+15G>C rs74124318 0.03560
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02997
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_002838.5(PTPRC):c.1052A>G (p.Asn351Ser) rs79141749 0.00956
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) rs144319016 0.00870
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306 0.00805
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_021926.4(ALX4):c.63C>T (p.Tyr21=) rs61737298 0.00736
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000744.7(CHRNA4):c.76+18G>T rs199908363 0.00504
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00262
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) rs148545588 0.00119
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=) rs140651265 0.00036
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_002471.4(MYH6):c.115G>A (p.Val39Met) rs142850511 0.00012
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_000540.3(RYR1):c.10824+8G>A rs374325589 0.00009
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=) rs200259564 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser) rs779350720 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_058216.3(RAD51C):c.905-19T>C rs368114768 0.00003
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.2682G>T (p.Pro894=) rs919322708 0.00001
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_001358921.2(COQ2):c.762+14C>A rs587780909 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001127198.5(TMC6):c.704A>G (p.Lys235Arg) rs80354176
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr) rs75235053
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002471.4(MYH6):c.3979-11_3979-9delinsG rs368229372
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_003661.4(APOL1):c.188-14T>G rs136163
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3660C>A (p.Thr1220=) rs573467341
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_021098.3(CACNA1H):c.6048+17del rs3833845
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_139281.3(WDR36):c.1717-20_1717-19insATATA rs33919278

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.