ClinVar Miner

Variants from Inherited Neuropathy Consortium with conflicting interpretations

Location: United States — Primary collection method: literature only
Minimum review status of the submission from Inherited Neuropathy Consortium: Collection method of the submission from Inherited Neuropathy Consortium:
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
1237 45 0 8 23 0 61 89

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
Inherited Neuropathy Consortium pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 2 0 5 1 0
uncertain significance 40 17 0 14 10
likely benign 0 1 2 0 0
benign 0 0 1 6 0

Submitter to submitter summary #

Total submitters: 24
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
Molecular Genetics Laboratory,London Health Sciences Centre 0 17 0 1 9 0 28 38
GeneReviews 0 0 0 0 0 0 15 15
Invitae 0 6 0 1 4 0 6 11
GeneDx 0 4 0 2 5 0 2 9
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 4 0 1 6
Genesis Genome Database 0 12 0 0 2 0 4 6
OMIM 0 0 0 0 0 0 5 5
Athena Diagnostics Inc 0 3 0 0 4 0 1 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 0 2 0 1 3
PreventionGenetics, PreventionGenetics 0 1 0 0 3 0 0 3
Natera, Inc. 0 2 0 0 0 0 3 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 1 0 2 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 0 0 0 3 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1 2
Ambry Genetics 0 0 0 0 1 0 1 2
Fulgent Genetics,Fulgent Genetics 0 0 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 0 0 0 1 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 0 0 0 0 0 0 1 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
Department of Human Genetics, University Hospital Magdeburg 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 89
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.9176T>C rs199476135
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.327C>T (p.Cys109=) rs863225028
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_001007792.1(NTRK1):c.1779C>T (p.Ala593=) rs6337
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002693.2(POLG):c.926G>A (p.Arg309His) rs780953863
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.229+1G>A rs730882139
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014874.3(MFN2):c.1724G>A (p.Arg575His) rs564375950
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_022041.3(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.3(GAN):c.1502+1G>T rs1555511978
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022041.3(GAN):c.18_19insA (p.Val7fs) rs1597385624
NM_022041.3(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.3(GAN):c.805C>T (p.Arg269Trp) rs776397915
NM_022041.3(GAN):c.877C>T (p.Arg293Ter) rs370358470
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549

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