ClinVar Miner

Variants from Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine: Collection method of the submission from Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine:
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 Variants with at least 2 submissions 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 kind of conflict
584 96 6 103 75 0 40 177

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
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 5 20 17 0 0
likely pathogenic 16 0 14 0 0
uncertain significance 3 7 0 14 3
likely benign 0 0 47 0 34
benign 1 0 14 33 1

Submitter to submitter summary #

Total submitters: 33
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
GeneDx 0 127 0 49 22 0 10 81
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 43 0 8 36 0 14 58
Invitae 0 66 0 16 17 0 15 48
Illumina Clinical Services Laboratory,Illumina 0 8 0 6 17 0 3 26
Ambry Genetics 0 34 0 10 6 0 4 20
Genetic Services Laboratory, University of Chicago 0 8 0 11 6 0 2 19
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 21 0 8 3 0 8 19
Athena Diagnostics Inc 0 22 0 8 8 0 2 18
OMIM 0 13 0 11 1 0 3 15
Fulgent Genetics 0 10 0 3 5 0 2 10
PreventionGenetics 0 23 0 9 0 0 0 9
GeneReviews 0 7 6 1 1 0 1 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 9 0 6 1 0 2 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 7 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 2 4 0 1 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 4 0 2 2 0 1 5
Institute of Human Genetics,Klinikum rechts der Isar 0 4 0 3 0 0 2 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 1 0 2 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 2 0 1 0 0 1 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 5 0 1 0 0 1 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 2 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 2 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 2 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 856 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 177
Download table as spreadsheet
HGVS dbSNP
NC_000006.12:g.5609990_5726136del116147
NG_008218.2:g.23094G>A rs758880377
NM_001113378.1(FANCI):c.*384A>G rs536522307
NM_002693.2(POLG):c.1066C>T (p.Leu356=) rs371431444
NM_002693.2(POLG):c.1126C>T (p.Leu376=) rs116165908
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1251G>A (p.Arg417=)
NM_002693.2(POLG):c.125_139dupGGCAGCAGCAGCAGC (p.Gln46_Gln47insArgGlnGlnGlnGln) rs1064795354
NM_002693.2(POLG):c.1275C>T (p.Ala425=) rs147404477
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.1311C>T (p.Val437=) rs62640035
NM_002693.2(POLG):c.131A>G (p.Gln44Arg) rs757120802
NM_002693.2(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.2(POLG):c.1386G>A (p.Ser462=) rs62640034
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.2(POLG):c.150G>A (p.Gln50=) rs766501874
NM_002693.2(POLG):c.153G>A (p.Gln51=) rs1453538834
NM_002693.2(POLG):c.154C>A (p.Gln52Lys) rs376683989
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.156_158dupGCA (p.Gln55_Pro56insGln) rs41550117
NM_002693.2(POLG):c.1585+11T>C rs201566815
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1674C>G (p.Leu558=) rs552085869
NM_002693.2(POLG):c.1712+10G>A rs55962804
NM_002693.2(POLG):c.1713-5C>T rs148494026
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1761G>A (p.Pro587=) rs374805003
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.2(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.2(POLG):c.1790G>A (p.Arg597Gln)
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1850G>A (p.Arg617His) rs779961986
NM_002693.2(POLG):c.186A>G (p.Leu62=) rs745310138
NM_002693.2(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.1887C>T (p.Asp629=) rs886051524
NM_002693.2(POLG):c.1890C>T (p.Asn630=) rs148658588
NM_002693.2(POLG):c.1898A>C (p.Lys633Thr) rs568913937
NM_002693.2(POLG):c.1904C>T (p.Pro635Leu) rs773994204
NM_002693.2(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.2(POLG):c.1943C>G (p.Pro648Arg) rs796052906
NM_002693.2(POLG):c.1949+20G>C rs371964664
NM_002693.2(POLG):c.1950-9T>C rs780378329
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.2019C>T (p.Ala673=) rs557179508
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2027C>T (p.Ala676Val) rs376306906
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2071-14T>G rs150088708
NM_002693.2(POLG):c.2109C>A (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2149C>T (p.Leu717=) rs779515404
NM_002693.2(POLG):c.2157+11C>T rs56411159
NM_002693.2(POLG):c.2157+15G>A rs766521182
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2220C>T (p.Asn740=) rs141538857
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2264A>C (p.Lys755Thr) rs770438363
NM_002693.2(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.2481-10A>C rs555280530
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.2(POLG):c.2620T>A (p.Leu874Met) rs758402960
NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) rs368587966
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) rs375935084
NM_002693.2(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) rs11546842
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.2870C>T (p.Ala957Val) rs753160398
NM_002693.2(POLG):c.2880C>T (p.Pro960=) rs752500492
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.2(POLG):c.3075G>A (p.Leu1025=) rs146404260
NM_002693.2(POLG):c.3104+8C>A rs754615624
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg)
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3216C>G (p.Thr1072=) rs146936870
NM_002693.2(POLG):c.3222G>T (p.Val1074=) rs746773616
NM_002693.2(POLG):c.3258G>A (p.Ser1086=)
NM_002693.2(POLG):c.3273+6T>A rs886051522
NM_002693.2(POLG):c.3274-19G>A rs116925016
NM_002693.2(POLG):c.3285C>G (p.Ser1095Arg) rs761649878
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) rs201732356
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.3294T>C (p.Asn1098=) rs374224714
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3383G>A (p.Arg1128His)
NM_002693.2(POLG):c.3405C>T (p.Asp1135=) rs2307445
NM_002693.2(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3450C>T (p.Ala1150=) rs774880085
NM_002693.2(POLG):c.3451C>T (p.Leu1151=) rs769193603
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.3482+7G>A rs200309191
NM_002693.2(POLG):c.3483-2A>G rs1057518035
NM_002693.2(POLG):c.3516C>G (p.Asp1172Glu) rs766196697
NM_002693.2(POLG):c.3519G>A (p.Leu1173=) rs953889846
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.3586G>A (p.Asp1196Asn) rs765344513
NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter) rs781256643
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3652C>T (p.Leu1218=) rs146301349
NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) rs148786642
NM_002693.2(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.408C>G (p.Asp136Glu) rs115109291
NM_002693.2(POLG):c.578G>A (p.Arg193Gln) rs3176162
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.798G>T (p.Val266=) rs143631183
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.2(POLG):c.852C>T (p.Ile284=) rs41540414
NM_002693.2(POLG):c.855G>C (p.Gln285His) rs141367015
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002693.2(POLG):c.915C>G (p.Ser305Arg) rs769410130
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_006567.4(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006567.4(FARS2):c.1172A>T (p.Asp391Val) rs397514612
NM_006567.4(FARS2):c.1255C>T (p.Arg419Cys) rs775690041
NM_006567.4(FARS2):c.1268G>A (p.Arg423Gln) rs148921184
NM_006567.4(FARS2):c.170C>G (p.Ser57Cys) rs34382405
NM_006567.4(FARS2):c.407C>A (p.Pro136His) rs199863563
NM_006567.4(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.4(FARS2):c.461C>T (p.Ala154Val) rs749588235
NM_006567.4(FARS2):c.462G>T (p.Ala154=) rs150477330
NM_006567.4(FARS2):c.476A>C (p.His159Pro)
NM_006567.4(FARS2):c.506A>T (p.Asp169Val) rs146356199
NM_006567.4(FARS2):c.521_523delTGG (p.Val174del) rs1554169392
NM_006567.4(FARS2):c.550G>A (p.Asp184Asn) rs554931092
NM_006567.4(FARS2):c.606G>A (p.Lys202=) rs17851782
NM_006567.4(FARS2):c.676C>T (p.His226Tyr) rs201991648
NM_006567.4(FARS2):c.737C>T (p.Thr246Met) rs116567033
NM_006567.4(FARS2):c.873C>T (p.Cys291=) rs372301183
NM_006567.4(FARS2):c.973G>T (p.Asp325Tyr) rs764427452
NM_006567.4(FARS2):c.986T>C (p.Ile329Thr) rs397514611
NM_012160.4(FBXL4):c.1067delG (p.Gly356Alafs) rs1554219474
NM_012160.4(FBXL4):c.1251A>G (p.Gln417=) rs151258576
NM_012160.4(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863
NM_012160.4(FBXL4):c.1317+14A>G rs182139048
NM_012160.4(FBXL4):c.1353A>G (p.Ser451=) rs141165629
NM_012160.4(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_012160.4(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_012160.4(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_012160.4(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_012160.4(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_012160.4(FBXL4):c.351G>A (p.Thr117=) rs375173811
NM_012160.4(FBXL4):c.419T>C (p.Val140Ala) rs1057519447
NM_012160.4(FBXL4):c.468T>C (p.Ala156=) rs114916821
NM_012160.4(FBXL4):c.978A>G (p.Gln326=) rs61744041
NM_012160.4(FBXL4):c.9G>A (p.Pro3=) rs773041308

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