ClinVar Miner

Variants from Dan Cohn Lab,University Of California Los Angeles with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Dan Cohn Lab,University Of California Los Angeles: Collection method of the submission from Dan Cohn Lab,University Of California Los Angeles:
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
67 8 0 119 0 0 30 137

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.

All submitters
Dan Cohn Lab,University Of California Los Angeles likely pathogenic uncertain significance likely benign benign
pathogenic 119 10 1 1
uncertain significance 18 0 0 0

Submitter to submitter summary #

Total submitters: 5
Download table as spreadsheet
Submitter 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
University of Washington Center for Mendelian Genomics, University of Washington 0 8 0 119 0 0 18 137
Invitae 0 2 0 1 0 0 10 11
Counsyl 0 2 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 137
Download table as spreadsheet
HGVS dbSNP
NM_001199397.2(NEK1):c.1122A>C (p.Glu374Asp) rs992324423
NM_001199397.2(NEK1):c.1226G>A (p.Trp409Ter) rs985064686
NM_001199397.2(NEK1):c.1618C>T (p.Arg540Ter) rs758677637
NM_001199397.2(NEK1):c.2886-1G>A rs773496891
NM_001199397.2(NEK1):c.418G>A (p.Gly140Arg) rs1301705612
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys) rs200710887
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu) rs1555081345
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) rs1555143920
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu) rs373521030
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys) rs758155107
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) rs1196317554
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys) rs969015057
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg) rs1236962991
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro) rs373832683
NM_012224.3(NEK1):c.1685_1686del (p.Arg562fs) rs1554053289
NM_012224.3(NEK1):c.1784del (p.Ser595fs) rs1362848762
NM_012224.3(NEK1):c.214+1G>A rs1049502301
NM_012224.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_014714.4(IFT140):c.1010-1G>A rs770185023
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys) rs146820102
NM_015650.4(TRAF3IP1):c.1368-1del rs764906529
NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys) rs769651861
NM_015650.4(TRAF3IP1):c.988-1G>C rs372499275
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys) rs76483206
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp) rs776300442
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508
NM_020779.4(WDR35):c.1400+3A>G rs776631281
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) rs1553316926
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.487_490del (p.Leu163fs) rs1553764834
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) rs1553516687
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469
NM_025103.4(IFT74):c.120+2dup rs551515830
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486
NM_025129.5(FUZ):c.98_111+9del rs548706733
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.3565+1G>A rs587777352
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) rs745603321
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) rs1451698951
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser) rs1553905326
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857
NM_052844.3(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096
NM_052844.3(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441
NM_052844.3(DYNC2I2):c.1567_1582del (p.Glu523fs) rs1554770453
NM_052844.3(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074
NM_052844.3(DYNC2I2):c.935T>C (p.Phe312Ser) rs1554771175
NM_052873.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619
NM_153717.3(EVC):c.1886+5G>T rs794726665
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180

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