ClinVar Miner

Variants from Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital: Collection method of the submission from Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital:
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
130 40 1 62 24 0 7 82

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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 2 0 0
likely pathogenic 5 0 5 0 0
uncertain significance 0 0 0 0 1
likely benign 0 0 19 1 32
benign 0 0 4 20 0

Submitter to submitter summary #

Total submitters: 34
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
Invitae 0 19 0 18 2 0 4 24
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 19 0 11 5 0 0 16
GeneDx 0 19 0 11 3 0 0 14
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 5 0 7 2 0 0 9
Genetic Services Laboratory, University of Chicago 0 11 0 5 3 0 0 8
Athena Diagnostics Inc 0 3 0 6 1 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 14 0 6 1 0 0 7
Illumina Clinical Services Laboratory,Illumina 0 6 0 5 2 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 5 0 6 0 0 0 6
PreventionGenetics,PreventionGenetics 0 20 0 6 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 10 0 2 4 0 0 6
Ambry Genetics 0 14 0 4 0 0 1 5
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 1 1 2 0 0 4
Baylor Genetics 0 3 0 2 0 0 1 3
Integrated Genetics/Laboratory Corporation of America 0 10 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 3 0 0 0 3
OMIM 0 10 0 2 0 0 0 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 0 1 1 0 0 2
Counsyl 0 0 0 1 0 0 1 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 2 0 1 1 0 0 2
Department of Pathology and Molecular Medicine,Queen's University 0 0 0 1 1 0 0 2
Mendelics 0 0 0 1 0 0 0 1
GeneReviews 0 7 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 6 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 1 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 82
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000488.3(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000543.5(SMPD1):c.108_113GCTGGC[4] (p.38_39AL[4]) rs3838786
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000718.4(CACNA1B):c.4848C>T (p.Ile1616=) rs77664166
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001037.5(SCN1B):c.448+321G>A rs72558028
NM_001039591.3(USP9X):c.5920A>G (p.Ile1974Val) rs760867179
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001283009.1(RTEL1):c.3823-5C>G rs141522376
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034
NM_001367624.1(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_002016.1(FLG):c.2282_2285delCAGT rs558269137
NM_002691.4(POLD1):c.1148C>T (p.Thr383Ile) rs201654210
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) rs142972252
NM_004187.5(KDM5C):c.3441C>T (p.Ile1147=) rs45442400
NM_004369.3(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005120.3(MED12):c.6241_6243CAG[7] (p.Gln2086dup) rs786200971
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_006662.3(SRCAP):c.8482C>T (p.Arg2828Cys) rs144623507
NM_007035.3(KERA):c.835C>T (p.Arg279Ter) rs386833986
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_012330.4(KAT6B):c.3289_3291GAA[9] (p.Glu1104dup) rs71929101
NM_015474.3(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432
NM_015474.3(SAMHD1):c.428G>A (p.Arg143His) rs369035155
NM_015531.6(C2CD3):c.2659G>A (p.Val887Met) rs117535770
NM_015531.6(C2CD3):c.704C>T (p.Pro235Leu) rs149910292
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020928.2(ZSWIM6):c.1729C>T (p.Arg577Cys) rs116036211
NM_024665.6(TBL1XR1):c.689C>T (p.Ser230Phe) rs1553815393
NM_030787.3(CFHR5):c.254-5C>T rs185709089
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042
NM_032682.6(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845
NM_078480.3(PUF60):c.60_62GGC[6] (p.Ala25dup) rs540307276
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu) rs200992550
NM_147196.2(TMIE):c.219G>A (p.Thr73=) rs202208051
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr) rs376327805
NM_194318.4(B3GLCT):c.450C>A (p.Asp150Glu) rs141743580
NM_198994.3(TGM6):c.502G>A (p.Val168Met) rs147494925
NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) rs61910685

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