ClinVar Miner

Variants from Johns Hopkins Genomics, Johns Hopkins University with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Johns Hopkins Genomics, Johns Hopkins University: Collection method of the submission from Johns Hopkins Genomics, Johns Hopkins University:
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
373 196 5 100 27 3 39 156

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
Johns Hopkins Genomics, Johns Hopkins University pathogenic likely pathogenic uncertain significance likely benign benign association risk factor
pathogenic 5 38 6 0 0 0 2
likely pathogenic 26 0 17 2 2 0 0
uncertain significance 7 10 0 4 2 1 1
likely benign 1 1 16 0 21 0 0
benign 0 0 5 15 0 0 0

Submitter to submitter summary #

Total submitters: 43
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
Counsyl 0 23 0 22 4 0 11 37
Invitae 0 135 0 17 3 1 14 35
Illumina Clinical Services Laboratory,Illumina 0 42 0 15 13 0 7 35
Mendelics 0 45 0 7 7 0 9 23
OMIM 0 57 0 8 0 2 4 14
Integrated Genetics/Laboratory Corporation of America 0 63 0 12 1 0 1 14
GeneReviews 0 17 5 3 0 0 1 9
Baylor Genetics 0 11 0 4 2 0 0 6
Natera, Inc. 0 29 0 2 3 0 1 6
CFTR-France 0 52 0 6 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 11 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 2 1 0 0 3
Ambry Genetics 0 1 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 0 1 0 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 1 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 1 1 0 0 2
Myriad Women's Health, Inc. 0 36 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 7 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 6 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 3 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 21 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 4 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 2 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 7 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1 0 0 0 1
UW Hindbrain Malformation Research Program,University of Washington 0 1 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 6 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 4 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 4 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 0 0 0 0 1 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 0 0 0 0 1 1
Institute of Human Genetics,Heidelberg University 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 2 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 0 0 0 0 0 1 1
Pars Genome Lab 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 156
Download table as spreadsheet
HGVS dbSNP
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000157.4(GBA):c.476G>A (p.Arg159Gln) rs79653797
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111
NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201
NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.3(CFTR):c.1766+2T>C rs1554389062
NM_000492.3(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter) rs397508333
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.273+4A>G rs387906374
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2846A>T (p.His949Leu) rs397508444
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.490-1G>A rs397508734
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.4(CFTR):c.1125A>C rs73215912
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.1367T>C rs193922500
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.4(CFTR):c.1517T>C rs397508224
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.1766+5G>T rs121908796
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) rs111033552
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp)
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311
NM_001022.4(RPS19):c.393G>A (p.Leu131=)
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347
NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln) rs201979429
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe)
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr)
NM_001317778.2(SFTPC):c.43-7G>A rs79440568
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr)
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2476C>T rs115746363
NM_002016.2(FLG):c.9947C>G rs149484917
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006929.5(SKIV2L):c.757C>T (p.Arg253Ter) rs768503878
NM_014625.3(NPHS2):c.503G>A (p.Arg168His) rs530318579
NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) rs748812981
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393
NM_021922.3(FANCE):c.1333C>T rs141551053
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921

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