ClinVar Miner

Variants with conflicting interpretations studied for Nemaline myopathy 2

Coded as:
Minimum review status of the submission for Nemaline myopathy 2: Y axis collection method of the submission for Nemaline myopathy 2:
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
873 124 1 64 60 0 12 132

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 conditions
Nemaline myopathy 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 28 5 0 0
likely pathogenic 29 0 7 1 0
uncertain significance 4 6 0 53 2
likely benign 0 0 3 0 4
benign 0 0 3 25 0

Condition to condition summary #

Total conditions: 9
Download table as spreadsheet
Condition 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
not specified 0 15 0 28 46 0 0 74
not provided 0 84 0 19 11 0 5 33
Nemaline myopathy 2 1067 33 1 22 0 0 7 29
Nemaline Myopathy, Recessive 0 38 0 17 4 0 0 21
Nemaline myopathy 0 7 0 9 0 0 0 9
Inborn genetic diseases 0 5 0 2 1 0 1 4
Muscular dystrophy; Progressive proximal muscle weakness; Limb pain 0 1 0 1 0 0 1 1
Nemaline myopathy 2, autosomal recessive 0 0 0 0 0 0 1 1
Non-immune hydrops fetalis 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 132
Download table as spreadsheet
HGVS dbSNP
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10609G>A (p.Ala3537Thr) rs556492694
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.11077-4G>T rs878924060
NM_001271208.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.2(NEB):c.1152C>T (p.Asp384=) rs767328072
NM_001271208.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11806-7C>A rs779713133
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001271208.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001271208.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305
NM_001271208.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001271208.2(NEB):c.12770G>A (p.Arg4257His) rs576918934
NM_001271208.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001271208.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429
NM_001271208.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512
NM_001271208.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360
NM_001271208.2(NEB):c.13175G>A (p.Arg4392His) rs772352938
NM_001271208.2(NEB):c.13368+6A>G rs886038433
NM_001271208.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001271208.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
NM_001271208.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001271208.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001271208.2(NEB):c.1470C>T (p.Asp490=) rs778189876
NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[3] (p.52_56LAQPA[3]) rs377452683
NM_001271208.2(NEB):c.1570-2A>G rs1553603958
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.17520G>A (p.Ala5840=) rs372786852
NM_001271208.2(NEB):c.18431A>G (p.His6144Arg) rs34504204
NM_001271208.2(NEB):c.18555G>A (p.Lys6185=) rs145252235
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
NM_001271208.2(NEB):c.20766C>T (p.Asp6922=) rs34555492
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001271208.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155
NM_001271208.2(NEB):c.21511A>T (p.Met7171Leu) rs886038447
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21961G>A (p.Asp7321Asn) rs35625617
NM_001271208.2(NEB):c.22068A>G (p.Lys7356=) rs61730765
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter) rs748922882
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.2(NEB):c.22533C>T (p.Leu7511=) rs371431256
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001271208.2(NEB):c.23486C>T (p.Ser7829Leu) rs41270201
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.2(NEB):c.2415T>C (p.Asp805=) rs566989836
NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24313-7C>T rs113048349
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs) rs1553552384
NM_001271208.2(NEB):c.24405G>C (p.Ser8135=) rs541126160
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) rs794727136
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.25500T>G (p.Ser8500=) rs13031275
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg) rs201714437
NM_001271208.2(NEB):c.2784del (p.Asp929fs) rs786204430
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.294+2T>C rs773952935
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_001271208.2(NEB):c.3987+1G>A rs780022652
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001271208.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120
NM_001271208.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_001271208.2(NEB):c.7343G>A (p.Arg2448His) rs373589529
NM_001271208.2(NEB):c.7431+1919_7536+374del
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977
NM_001271208.2(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271208.2(NEB):c.914A>G (p.Asp305Gly) rs36105240
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.