ClinVar Miner

Variants from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All 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
429 183 4 44 35 3 30 109

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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor
pathogenic 4 29 14 2 1 0 0
likely pathogenic 14 0 3 0 0 0 1
uncertain significance 8 2 0 27 10 2 0
likely benign 0 0 1 0 0 0 0
benign 0 0 2 1 0 0 0

Submitter to submitter summary #

Total submitters: 53
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 73 0 8 10 0 7 25
GeneDx 0 35 0 3 8 0 5 16
Illumina Clinical Services Laboratory,Illumina 0 9 0 0 10 0 4 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 19 0 5 4 0 0 9
Ambry Genetics 0 10 0 2 5 0 0 7
Genetic Services Laboratory, University of Chicago 0 41 0 2 3 0 0 5
GeneReviews 0 9 4 1 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 0 2 1 0 2 5
Broad Institute Rare Disease Group, Broad Institute 0 2 0 1 0 0 4 5
OMIM 0 59 0 3 0 1 0 4
Integrated Genetics/Laboratory Corporation of America 0 26 0 1 3 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 14 0 2 1 0 0 3
Mendelics 0 2 0 0 1 0 2 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 20 0 0 3 0 0 3
Database of Curated Mutations (DoCM) 0 0 0 3 0 0 0 3
Athena Diagnostics Inc 0 10 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 11 0 0 2 0 0 2
Counsyl 0 1 0 2 0 0 0 2
Natera, Inc. 0 0 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2 2
CSER _CC_NCGL, University of Washington 0 1 0 1 0 0 1 2
Center for Medical Genetics Ghent,University of Ghent 0 3 0 1 0 0 1 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 2 0 0 0 2
UCL Genetics Institute,UCL 0 0 0 0 0 2 0 2
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 2 0 0 0 2
CFTR-France 0 1 0 0 0 0 2 2
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 6 0 1 0 0 1 2
Baylor Genetics 0 10 0 0 0 0 1 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 14 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 3 0 1 0 0 0 1
PreventionGenetics, PreventionGenetics 0 3 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 0 1 0 0 0 1
CFTR2 0 2 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 1 0 0 0 1
Blueprint Genetics 0 4 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 0 0 1 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 8 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 0 0 1 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 109
Download table as spreadsheet
HGVS dbSNP
NM_000071.2(CBS):c.1280C>T (p.Pro427Leu) rs863223434
NM_000109.4(DMD):c.5300_5301delinsGT (p.Lys1767Ser) rs1557303381
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.4(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.4(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000142.5(FGFR3):c.1138G>A rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) rs878853894
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000348.4(SRD5A2):c.*43G>A rs28383082
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000492.3(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) rs61750070
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_001035.3(RYR2):c.8209-3A>G rs376788358
NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) rs768407867
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.1812+1G>A rs373286166
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753
NM_005149.3(TBX19):c.204-3T>C rs200043223
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591
NM_006079.5(CITED2):c.479A>T (p.His160Leu) rs111814036
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_018328.4(MBD5):c.2979G>C (p.Gln993His) rs148321416
NM_018328.4(MBD5):c.4271C>A (p.Pro1424His) rs775673512
NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) rs149278000
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_144573.3(NEXN):c.242A>T (p.Asp81Val) rs367871780
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_198056.2(SCN5A):c.3718G>C (p.Glu1240Gln) rs199473211
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612

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