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 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
87 56 1 56 28 7 21 87

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 drug response risk factor
pathogenic 1 16 4 0 0 6 1
likely pathogenic 8 0 7 1 1 1 0
uncertain significance 1 5 0 6 4 0 0
likely benign 2 2 10 0 18 0 0
benign 2 0 10 14 0 0 0

Submitter to submitter summary #

Total submitters: 35
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 51 0 18 10 0 5 33
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 28 0 7 6 0 4 17
Illumina Clinical Services Laboratory,Illumina 0 16 0 6 7 0 2 15
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 17 0 5 5 0 2 12
Quest Diagnostics Nichols Institute San Juan Capistrano 0 13 0 9 1 0 1 11
Ambry Genetics 0 14 0 8 2 0 0 10
Mendelics 0 14 0 3 4 0 3 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 16 0 5 3 0 1 9
Counsyl 0 13 0 6 1 0 2 9
Integrated Genetics/Laboratory Corporation of America 0 29 0 7 0 0 1 8
CFTR-France 0 19 0 5 0 0 3 8
PharmGKB 0 0 0 0 0 7 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 2 0 4 7
PreventionGenetics,PreventionGenetics 0 7 0 6 0 0 0 6
OMIM 0 20 0 2 0 1 2 5
Genetic Services Laboratory, University of Chicago 0 5 0 1 2 0 2 5
Baylor Genetics 0 16 0 4 0 0 0 4
GeneDx 0 14 0 2 2 0 0 4
Fulgent Genetics,Fulgent Genetics 0 3 0 1 2 0 1 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 7 0 2 1 0 1 4
GeneReviews 0 5 1 1 0 0 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 2 0 0 1 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1 2
Athena Diagnostics Inc 0 1 0 0 0 0 1 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
HGVS dbSNP
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000492.3(CFTR):c.137C>T (p.Ala46Val) rs151020603
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) rs121908755
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.3(CFTR):c.1766+2T>C rs1554389062
NM_000492.3(CFTR):c.1766+5G>T rs121908796
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs144055758
NM_000492.3(CFTR):c.2604A>G (p.Val868=) rs1800105
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro) rs111033552
NM_000542.5(SFTPB):c.847G>A (p.Ala283Thr) rs36210375
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
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.213C>T (p.Phe71=) rs117515055
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001089.3(ABCA3):c.2333A>G (p.His778Arg)
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.838C>T (p.Arg280Cys) rs201299260
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys) rs150273659
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405
NM_001163213.1(FGFR3):c.2427A>G (p.Ter809Trp) rs121913103
NM_001271769.2(AP3B1):c.2873_2875CTG[1] (p.Ala959del) rs111935323
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424
NM_001283009.1(RTEL1):c.971G>A (p.Arg324His) rs113684274
NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532
NM_002016.2(FLG):c.2476C>T rs115746363
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045
NM_003018.4(SFTPC):c.24C>G (p.Val8=) rs144603526
NM_003018.4(SFTPC):c.43-7G>A rs79440568
NM_003018.4(SFTPC):c.500G>A (p.Arg167Gln) rs34957318
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_006929.5(SKIV2L):c.757C>T (p.Arg253Ter) rs768503878
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) rs386820399
NM_152841.2(HPS4):c.736A>T (p.Thr246Ser) rs34962745
NM_198253.2(TERT):c.2517G>A (p.Thr839=) rs140124989
NM_198253.2(TERT):c.2775C>T (p.His925=) rs34528119
NM_198253.2(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661

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