ClinVar Miner

Variants from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego: Collection method of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego:
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 96 5 60 1 4 21 76

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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective other
pathogenic 5 37 9 2 1 1 1 1 3
likely pathogenic 23 0 12 2 1 0 0 0 0
uncertain significance 1 1 0 1 1 0 1 1 1

Submitter to submitter summary #

Total submitters: 79
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 38 0 13 0 0 6 19
OMIM 0 48 0 10 0 3 0 13
Counsyl 0 12 0 9 0 0 3 12
Illumina Clinical Services Laboratory,Illumina 0 10 0 4 1 0 3 7
Baylor Genetics 0 28 0 5 0 0 2 6
GeneDx 0 10 0 6 1 0 1 6
GeneReviews 0 12 5 1 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 0 12 0 2 0 0 1 3
UCLA Clinical Genomics Center, UCLA 0 1 0 3 0 0 0 3
Color Health, Inc 0 2 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 3 0 0 1 3
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 3 3
Athena Diagnostics Inc 0 2 0 0 1 0 2 2
Genetic Services Laboratory, University of Chicago 0 13 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 0 1 0 0 1 2
PreventionGenetics, PreventionGenetics 0 0 0 2 0 0 0 2
Mendelics 0 3 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 2 0 1 0 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 2 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 8 0 1 0 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 0 1 1 0 1 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 2 0 0 0 2
Robarts Research Institute,Western University 0 2 0 1 0 0 1 2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 0 0 0 2 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 2 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 8 0 1 0 0 1 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 1 2
Claritas Genomics 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 4 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 4 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 1 0 0 0 0 1 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 2 0 1 0 0 0 1
Natera, Inc. 0 9 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 5 0 1 1 1 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 1 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 8 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 1 0 0 1 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 5 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 6 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 2 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 3 0 1 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 408 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 2 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 2 0 0 0 0 1 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 0 0 0 1 1
New York Genome Center 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 1 0 1 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) rs137852654
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp) rs121917723
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) rs137852322
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000540.2(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
NM_001032386.2(SUOX):c.1390_1391del (p.Leu464fs) rs1592831898
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe) rs796053099
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001242882.1(NAXD):c.922C>T (p.Arg308Cys) rs767778853
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
NM_002437.5(MPV17):c.186+2T>C rs147952488
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) rs74830677
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu) rs755946598
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln)
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_015282.3(CLASP1):c.196-562G>T rs370715569
NM_015282.3(CLASP1):c.196-607G>A rs180755563
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_031885.4(BBS2):c.118G>T (p.Val40Phe) rs886043059
NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_032043.2(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) rs776631396
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) rs137854604
Single allele

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