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 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
52 11 1 47 35 2 5 65

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 risk factor
likely benign 3 1 30 1 32 1
benign 1 0 5 15 0 1

Submitter to submitter summary #

Total submitters: 53
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
Invitae 0 19 0 23 5 0 0 28
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 18 0 11 5 0 0 16
GeneDx 0 18 0 11 3 0 0 14
Illumina Clinical Services Laboratory,Illumina 0 13 0 6 6 0 0 12
Ambry Genetics 0 14 0 10 1 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 4 0 7 2 0 0 9
Genetic Services Laboratory, University of Chicago 0 9 0 5 3 0 0 8
Color 0 7 0 8 0 0 0 8
Athena Diagnostics Inc 0 1 0 6 1 0 0 7
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 3 0 4 3 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 12 0 5 1 0 0 6
PreventionGenetics 0 20 0 6 0 0 0 6
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 1 2 2 0 0 5
Integrated Genetics/Laboratory Corporation of America 0 8 0 5 0 0 0 5
OMIM 0 1 0 0 1 2 2 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 5 0 4 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 4 0 4 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 0 2 2 0 0 4
Center for Human Genetics, Inc 0 0 0 1 2 0 0 3
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 3 0 1 2 0 0 3
Sharing Clinical Reports Project (SCRP) 0 1 0 3 0 0 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 3 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 3 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 3 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 7 0 3 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 3 0 1 1 0 0 2
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 2 0 0 2
Breast Cancer Information Core (BIC) (BRCA2) 0 0 0 0 2 0 0 2
Vantari Genetics 0 0 0 2 0 0 0 2
Department of Pathology and Molecular Medicine,Queen's University 0 0 0 1 1 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 0 1 0 0 0 1
Michigan Medical Genetics Laboratories,University of Michigan 0 2 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Fulgent Genetics 0 1 0 0 1 0 0 1
Blueprint Genetics, 0 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 0 1
Pathway Genomics 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 0 0 1 0 0 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 0 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 0 0 1 0 0 1
Department of Medical Genetics,University Hospital of North Norway 0 0 0 0 1 0 0 1
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 0 0 0 1 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 1 0 0 0 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 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
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000069.2(CACNA1S):c.3795+3G>A rs191758096
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000142.4(FGFR3):c.188C>G (p.Pro63Arg) rs371729802
NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro) rs5918
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000543.4(SMPD1):c.132_143delGCTGGCGCTGGC (p.Ala46_Leu49del) rs3838786
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000748.2(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000760.3(CSF3R):c.447G>C (p.Glu149Asp) rs139332126
NM_000833.4(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001035.2(RYR2):c.10324-4A>G rs72751287
NM_001037.4(SCN1B):c.448+321G>A rs72558028
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375
NM_001111035.2(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001127464.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481
NM_001184726.1(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_001242957.2(MAK):c.1715T>C (p.Ile572Thr) rs79544660
NM_001271208.1(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001283009.1(RTEL1):c.3823-5C>G rs141522376
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001558.3(IL10RA):c.884C>T (p.Pro295Leu) rs56143179
NM_001605.2(AARS):c.1685C>T (p.Thr562Ile) rs148355156
NM_002691.3(POLD1):c.1148C>T (p.Thr383Ile) rs201654210
NM_002860.3(ALDH18A1):c.2207-3C>T rs149309642
NM_003070.4(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) rs142972252
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004970.2(IGFALS):c.634G>A (p.Ala212Thr) rs368097770
NM_005120.2(MED12):c.6256_6258dupCAG (p.Gln2086_Ile2087insGln) rs786200971
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005629.3(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461
NM_006662.2(SRCAP):c.5705A>G (p.Glu1902Gly) rs117480926
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_012330.3(KAT6B):c.3310_3312dupGAA (p.Glu1104_Asn1105insGlu) rs71929101
NM_014080.4(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034
NM_016203.3(PRKAG2):c.1593G>A (p.Arg531=) rs148197254
NM_016335.4(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_017780.3(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.3(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_020822.2(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_023036.4(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589
NM_032444.2(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042
NM_032682.5(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845
NM_138422.2(ADAT3):c.383G>T (p.Arg128Leu) rs200992550
NM_147196.2(TMIE):c.219G>A (p.Thr73=) rs202208051
NM_152783.4(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_175073.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_182961.3(SYNE1):c.11702G>C (p.Ser3901Thr) rs376327805
NM_198994.2(TGM6):c.502G>A (p.Val168Met) rs147494925
NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) rs61910685

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