ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Athena Diagnostics Inc

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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
237 777 0 173 75 0 3 251

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 2 0 0 0
likely pathogenic 17 0 1 0 0
uncertain significance 1 1 0 39 26
likely benign 0 0 9 0 127
benign 0 0 1 27 0

All variants with conflicting interpretations #

Total variants: 251
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
NM_000142.4(FGFR3):c.930+10C>T rs534857289
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000337.5(SGCD):c.699+13_699+15del rs397517924
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His)
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000891.2(KCNJ2):c.1200G>A (p.Thr400=) rs201253055
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127713.1(ATL1):c.669C>T (p.Tyr223=) rs146975855
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.54812-5A>G rs375343798
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712
NM_004895.4(NLRP3):c.936C>T (p.Asp312=) rs143840033
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=) rs115322282
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544
NM_005591.3(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln) rs150931007
NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) rs71578935
NM_007078.3(LDB3):c.690-4823G>A rs121908338
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_015340.4(LARS2):c.1622+8G>A rs202009605
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*2459G>A rs147587689
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_024334.2(TMEM43):c.802C>T (p.Arg268Trp) rs201138253
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_032119.4(ADGRV1):c.22+9T>C rs368604803
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489
Single allele rs28359170

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