ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
2 285 0 62 59 1 11 133

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 6 3 0 0
likely pathogenic 2 0 3 0 0
uncertain significance 1 4 0 43 14
likely benign 0 0 4 0 34
benign 0 0 1 20 0
other 0 1 0 0 0

All variants with conflicting interpretations #

Total variants: 133
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2145A>G (p.Gly715=) rs112566179
NM_000059.3(BRCA2):c.3880T>C (p.Leu1294=) rs786201236
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000455.4(STK11):c.357C>T (p.Asn119=) rs372511774
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857
NM_000492.3(CFTR):c.-461A>G rs185028612
NM_000492.3(CFTR):c.-812T>G rs181008242
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.744-33GATT[8] rs1805171
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.1367T>C rs193922500
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000552.4(VWF):c.5313G>T (p.Gly1771=) rs2229448
NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser) rs61750615
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001142571.2(RAD51D):c.726A>G (p.Glu242=) rs114012742
NM_001142571.2(RAD51D):c.758A>G (p.Glu253Gly) rs28363284
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
NM_002485.4(NBN):c.1036G>A (p.Val346Met) rs200297914
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1317A>G (p.Ile439Met) rs28538230
NM_002485.4(NBN):c.1809C>A (p.Phe603Leu) rs192236678
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.5(NBN):c.38-10T>A rs556807466
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830
NM_002691.4(POLD1):c.1503C>T (p.Asn501=) rs371647100
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619
NM_002691.4(POLD1):c.612C>T (p.His204=) rs147881471
NM_002878.3(RAD51D):c.146C>T (p.Ala49Val) rs140317560
NM_002878.3(RAD51D):c.481-7G>A rs145832514
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_002878.3(RAD51D):c.919G>A (p.Glu307Lys) rs115031549
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_004329.2(BMPR1A):c.1395G>C (p.Pro465=) rs55845713
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.6(SMAD4):c.455-6A>G rs181178864
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_006231.3(POLE):c.6820C>G (p.Leu2274Val) rs148788180
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=) rs758515222
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=) rs786201224
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_012222.2(MUTYH):c.1592G>A (p.Arg531Gln) rs3219497
NM_024675.3(PALB2):c.2365C>T (p.Leu789=) rs145805054
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317

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