ClinVar Miner

Variants with conflicting interpretations studied for Nemaline Myopathy, Recessive

Coded as:
Minimum review status of the submission for Nemaline Myopathy, Recessive: Y axis collection method of the submission for Nemaline Myopathy, Recessive:
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
127 29 0 63 84 0 0 146

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, Recessive uncertain significance likely benign benign
uncertain significance 0 72 40
likely benign 1 0 49
benign 0 14 0

Condition to condition summary #

Total conditions: 8
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 4 0 63 75 0 0 138
Nemaline myopathy 2 0 28 0 34 54 0 0 88
not provided 0 50 0 13 10 0 0 23
Cardiomyopathy 0 0 0 1 1 0 0 1
Ciliary dyskinesia 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 1 0 0 1 0 0 1
Nemaline myopathy 5 0 1 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 146
Download table as spreadsheet
HGVS dbSNP
NM_000363.4(TNNI3):c.373-10G= rs7252610
NM_001271208.1(NEB):c.10452+9A>G rs117270796
NM_001271208.1(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.1(NEB):c.11133T>C (p.Asp3711=) rs547109690
NM_001271208.1(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.1(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.1(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.1(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.1(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.1(NEB):c.18783G>A (p.Gln6261=) rs148095660
NM_001271208.1(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.1(NEB):c.195G>A (p.Pro65=) rs79524813
NM_001271208.1(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.1(NEB):c.21945+13A>C rs75515097
NM_001271208.1(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.1(NEB):c.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.1(NEB):c.2318A>G (p.Tyr773Cys) rs77151072
NM_001271208.1(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.1(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.1(NEB):c.25255+12G>A rs4414676
NM_001271208.1(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.1(NEB):c.25647C>T (p.Thr8549=) rs3821324
NM_001271208.1(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.1(NEB):c.3348C>T (p.Asn1116=) rs149162847
NM_001271208.1(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.1(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.1(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.1(NEB):c.5763+15C>T rs148455519
NM_001271208.1(NEB):c.6184-14T>A rs10173335
NM_001271208.1(NEB):c.6449C>T (p.Ala2150Val) rs375256600
NM_001271208.1(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.1(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.1(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_003283.5(TNNT1):c.-12+15G>A rs539247551
NM_003283.5(TNNT1):c.-20A>G rs9636153
NM_003283.5(TNNT1):c.129-9T>G rs67795913
NM_003283.5(TNNT1):c.33-8G>A rs76630067
NM_003283.5(TNNT1):c.47-13C>T rs11669534
NM_003283.5(TNNT1):c.750+15C>T rs138664823
NM_004543.4(NEB):c.10015G>A (p.Val3339Ile) rs139798654
NM_004543.4(NEB):c.10080G>C (p.Trp3360Cys) rs10172023
NM_004543.4(NEB):c.10296G>A (p.Thr3432=) rs199789085
NM_004543.4(NEB):c.10347+12A>G rs201250579
NM_004543.4(NEB):c.10419G>C (p.Met3473Ile) rs149025191
NM_004543.4(NEB):c.10436G>A (p.Arg3479Gln) rs757027644
NM_004543.4(NEB):c.11659T>A (p.Ser3887Thr) rs35227368
NM_004543.4(NEB):c.11808A>G (p.Pro3936=) rs33988153
NM_004543.4(NEB):c.12312C>T (p.Tyr4104=) rs555516831
NM_004543.4(NEB):c.12532-3delT rs3214503
NM_004543.4(NEB):c.1257+13A>T rs75320668
NM_004543.4(NEB):c.12644A>G (p.Lys4215Arg) rs73967567
NM_004543.4(NEB):c.12961A>G (p.Ile4321Val) rs574746662
NM_004543.4(NEB):c.12C>T (p.Asp4=) rs117178114
NM_004543.4(NEB):c.13191T>C (p.Tyr4397=) rs2288211
NM_004543.4(NEB):c.13202G>C (p.Arg4401Thr) rs2288210
NM_004543.4(NEB):c.13328A>G (p.His4443Arg) rs34504204
NM_004543.4(NEB):c.13427G>A (p.Arg4476His) rs147159176
NM_004543.4(NEB):c.13452G>A (p.Lys4484=) rs145252235
NM_004543.4(NEB):c.13590G>C (p.Ala4530=) rs141338915
NM_004543.4(NEB):c.13894-10T>C rs4544436
NM_004543.4(NEB):c.13953G>T (p.Thr4651=) rs115631125
NM_004543.4(NEB):c.13999-6C>T rs145127681
NM_004543.4(NEB):c.14182G>A (p.Ala4728Thr) rs149752325
NM_004543.4(NEB):c.14183C>A (p.Ala4728Asp) rs139636644
NM_004543.4(NEB):c.14208C>T (p.Ser4736=) rs16830216
NM_004543.4(NEB):c.14629-6C>T rs11894996
NM_004543.4(NEB):c.14929C>T (p.Arg4977Cys) rs200239095
NM_004543.4(NEB):c.15089A>T (p.Asp5030Val) rs2288200
NM_004543.4(NEB):c.15364-4T>A rs199791504
NM_004543.4(NEB):c.15364-5_15364-4dupTT rs10687343
NM_004543.4(NEB):c.15495C>G (p.Gly5165=) rs16830192
NM_004543.4(NEB):c.15663C>T (p.Asp5221=) rs34555492
NM_004543.4(NEB):c.15941C>G (p.Ser5314Cys) rs62167164
NM_004543.4(NEB):c.16416C>T (p.Ser5472=) rs16830170
NM_004543.4(NEB):c.16443C>T (p.Asn5481=) rs149510427
NM_004543.4(NEB):c.16482A>G (p.Thr5494=) rs4664475
NM_004543.4(NEB):c.16617C>T (p.Tyr5539=) rs34718443
NM_004543.4(NEB):c.1675-9T>G rs75118047
NM_004543.4(NEB):c.16753G>A (p.Asp5585Asn) rs35625617
NM_004543.4(NEB):c.16758G>A (p.Arg5586=) rs372808358
NM_004543.4(NEB):c.16860A>G (p.Lys5620=) rs61730765
NM_004543.4(NEB):c.16947+13C>T rs113403461
NM_004543.4(NEB):c.17169+7T>C rs762551492
NM_004543.4(NEB):c.17775C>A (p.Ala5925=) rs185574478
NM_004543.4(NEB):c.177G>A (p.Gln59=) rs200990309
NM_004543.4(NEB):c.17910C>T (p.Ser5970=) rs370873040
NM_004543.4(NEB):c.17952G>A (p.Gly5984=) rs563896790
NM_004543.4(NEB):c.18278C>T (p.Ser6093Leu) rs41270201
NM_004543.4(NEB):c.18865G>C (p.Ala6289Pro) rs7575451
NM_004543.4(NEB):c.18952G>A (p.Ala6318Thr) rs199937246
NM_004543.4(NEB):c.19189A>G (p.Ile6397Val) rs551649582
NM_004543.4(NEB):c.19470A>G (p.Gln6490=) rs184319249
NM_004543.4(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_004543.4(NEB):c.19636A>G (p.Ile6546Val) rs1061305
NM_004543.4(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_004543.4(NEB):c.19827T>G (p.Ser6609=) rs13031275
NM_004543.4(NEB):c.19996G>A (p.Val6666Ile) rs117861109
NM_004543.4(NEB):c.2343G>A (p.Lys781=) rs191610670
NM_004543.4(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_004543.4(NEB):c.2524-15G>T rs151206071
NM_004543.4(NEB):c.2944-9G>A rs13427102
NM_004543.4(NEB):c.3081A>T (p.Lys1027Asn) rs6735208
NM_004543.4(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_004543.4(NEB):c.3444G>A (p.Ala1148=) rs375569766
NM_004543.4(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_004543.4(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_004543.4(NEB):c.3637G>A (p.Val1213Ile) rs202124287
NM_004543.4(NEB):c.3775-6T>C rs80232472
NM_004543.4(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_004543.4(NEB):c.3986A>C (p.Asp1329Ala) rs115986826
NM_004543.4(NEB):c.3987+11A>T rs116903097
NM_004543.4(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_004543.4(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_004543.4(NEB):c.4435G>A (p.Val1479Ile) rs34577613
NM_004543.4(NEB):c.4471G>A (p.Val1491Met) rs7426114
NM_004543.4(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_004543.4(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_004543.4(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_004543.4(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_004543.4(NEB):c.5181C>T (p.Tyr1727=) rs35016946
NM_004543.4(NEB):c.5370G>A (p.Glu1790=) rs10170273
NM_004543.4(NEB):c.5772C>T (p.Tyr1924=) rs77547727
NM_004543.4(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_004543.4(NEB):c.5971C>T (p.His1991Tyr) rs75807392
NM_004543.4(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_004543.4(NEB):c.612+8T>C rs113095802
NM_004543.4(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_004543.4(NEB):c.6807+6T>G rs10930723
NM_004543.4(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_004543.4(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_004543.4(NEB):c.7342C>T (p.Arg2448Cys) rs576076237
NM_004543.4(NEB):c.771T>C (p.Ala257=) rs4611637
NM_004543.4(NEB):c.7839G>C (p.Lys2613Asn) rs13013209
NM_004543.4(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_004543.4(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_004543.4(NEB):c.8466C>T (p.His2822=) rs61730771
NM_004543.4(NEB):c.8490G>A (p.Arg2830=) rs368217121
NM_004543.4(NEB):c.8592T>C (p.Asp2864=) rs61730772
NM_004543.4(NEB):c.863A>G (p.Lys288Arg) rs202035863
NM_004543.4(NEB):c.8734T>C (p.Ser2912Pro) rs6713162
NM_004543.4(NEB):c.9014A>G (p.Asn3005Ser) rs139548702
NM_004543.4(NEB):c.9136G>A (p.Gly3046Ser) rs75639119
NM_004543.4(NEB):c.914A>G (p.Asp305Gly) rs36105240
NM_004543.4(NEB):c.984C>T (p.Thr328=) rs199969138
NM_004543.4(NEB):c.9879C>T (p.Gly3293=) rs144673752
NM_004543.4(NEB):c.9978G>A (p.Lys3326=) rs6717213

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