ClinVar Miner

Variants with conflicting interpretations studied for Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy

Coded as:
Minimum review status of the submission for Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy: Y axis collection method of the submission for Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy:
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
466 228 0 33 68 0 0 101

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
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy pathogenic uncertain significance likely benign
likely pathogenic 1 0 0
uncertain significance 0 0 48
likely benign 0 20 0
benign 0 0 32

Condition to condition summary #

Total conditions: 2
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 29 0 32 38 0 0 70
not provided 0 241 0 1 32 0 0 33

All variants with conflicting interpretations #

Total variants: 101
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HGVS dbSNP
NM_000445.5(PLEC):c.10010C>T (p.Ala3337Val) rs183230983
NM_000445.5(PLEC):c.10095C>T (p.Val3365=) rs35775257
NM_000445.5(PLEC):c.10139G>C (p.Gly3380Ala) rs35261863
NM_000445.5(PLEC):c.10211G>A (p.Arg3404Gln) rs375724891
NM_000445.5(PLEC):c.10238C>T (p.Ala3413Val) rs532234200
NM_000445.5(PLEC):c.10259C>T (p.Ala3420Val) rs370079447
NM_000445.5(PLEC):c.10367C>T (p.Ala3456Val) rs782556459
NM_000445.5(PLEC):c.10494G>A (p.Thr3498=) rs782728053
NM_000445.5(PLEC):c.10579C>T (p.Arg3527Cys) rs200541837
NM_000445.5(PLEC):c.10778C>T (p.Ala3593Val) rs782700068
NM_000445.5(PLEC):c.11117C>T (p.Ala3706Val) rs200060757
NM_000445.5(PLEC):c.11170C>T (p.Leu3724=) rs17062686
NM_000445.5(PLEC):c.11369C>T (p.Ser3790Leu) rs377598440
NM_000445.5(PLEC):c.11410G>A (p.Glu3804Lys) rs538589589
NM_000445.5(PLEC):c.11519G>A (p.Arg3840His) rs782311906
NM_000445.5(PLEC):c.11584G>A (p.Asp3862Asn) rs368824832
NM_000445.5(PLEC):c.11620G>A (p.Val3874Met) rs201654895
NM_000445.5(PLEC):c.11678G>A (p.Arg3893His) rs377150241
NM_000445.5(PLEC):c.11680G>C (p.Asp3894His) rs62642465
NM_000445.5(PLEC):c.11682C>T (p.Asp3894=) rs75833626
NM_000445.5(PLEC):c.11816G>A (p.Arg3939Gln) rs781960031
NM_000445.5(PLEC):c.11994G>A (p.Ala3998=) rs73715559
NM_000445.5(PLEC):c.12642C>T (p.Asp4214=) rs11998271
NM_000445.5(PLEC):c.12752C>G (p.Ala4251Gly) rs368212208
NM_000445.5(PLEC):c.12799G>A (p.Ala4267Thr) rs201688261
NM_000445.5(PLEC):c.13066C>T (p.Arg4356Cys) rs375593618
NM_000445.5(PLEC):c.13286C>T (p.Thr4429Met) rs113513807
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000445.5(PLEC):c.13530C>T (p.Ser4510=) rs782187551
NM_000445.5(PLEC):c.13567G>A (p.Gly4523Ser) rs782618187
NM_000445.5(PLEC):c.13717G>A (p.Val4573Met) rs573424409
NM_000445.5(PLEC):c.1749C>T (p.Gly583=) rs369796183
NM_000445.5(PLEC):c.1787G>A (p.Arg596Gln) rs3135103
NM_000445.5(PLEC):c.1818+9C>T rs371976170
NM_000445.5(PLEC):c.2175G>A (p.Ala725=) rs373347166
NM_000445.5(PLEC):c.2259+10G>A rs781817693
NM_000445.5(PLEC):c.2259+9C>G rs114256617
NM_000445.5(PLEC):c.2298G>A (p.Gln766=) rs116612406
NM_000445.5(PLEC):c.2318G>A (p.Arg773His) rs200887085
NM_000445.5(PLEC):c.2589G>A (p.Pro863=) rs116385960
NM_000445.5(PLEC):c.2629G>A (p.Ala877Thr) rs58836306
NM_000445.5(PLEC):c.2694-7C>A rs11990994
NM_000445.5(PLEC):c.2723C>T (p.Thr908Met) rs200611519
NM_000445.5(PLEC):c.2739G>A (p.Leu913=) rs78012434
NM_000445.5(PLEC):c.2913C>T (p.Gly971=) rs145050858
NM_000445.5(PLEC):c.3043G>C (p.Glu1015Gln) rs367627441
NM_000445.5(PLEC):c.3459G>A (p.Glu1153=) rs11991764
NM_000445.5(PLEC):c.3768G>T (p.Arg1256=) rs782037394
NM_000445.5(PLEC):c.3792G>T (p.Pro1264=) rs572124553
NM_000445.5(PLEC):c.3798C>T (p.Ala1266=) rs112173070
NM_000445.5(PLEC):c.3812T>G (p.Val1271Gly) rs187648086
NM_000445.5(PLEC):c.3838-9A>G rs57461687
NM_000445.5(PLEC):c.3954G>A (p.Ala1318=) rs374669316
NM_000445.5(PLEC):c.4182C>T (p.Ala1394=) rs376065732
NM_000445.5(PLEC):c.4301C>T (p.Ala1434Val) rs548430154
NM_000445.5(PLEC):c.4725G>A (p.Ala1575=) rs62642470
NM_000445.5(PLEC):c.4757G>A (p.Arg1586Gln)
NM_000445.5(PLEC):c.4881C>T (p.His1627=) rs149044728
NM_000445.5(PLEC):c.5105G>A (p.Arg1702Gln) rs370569372
NM_000445.5(PLEC):c.5310G>A (p.Ala1770=) rs140406501
NM_000445.5(PLEC):c.5558G>A (p.Arg1853Gln) rs147838690
NM_000445.5(PLEC):c.5670C>T (p.Asn1890=) rs782678351
NM_000445.5(PLEC):c.5946G>A (p.Ala1982=) rs62642469
NM_000445.5(PLEC):c.6022C>T (p.Arg2008Trp) rs962321651
NM_000445.5(PLEC):c.6394_6395delinsAT (p.Ala2132Met) rs886044784
NM_000445.5(PLEC):c.6480G>A (p.Ala2160=) rs375489890
NM_000445.5(PLEC):c.6550C>G (p.Leu2184Val) rs558775133
NM_000445.5(PLEC):c.6617G>A (p.Arg2206Gln) rs117962829
NM_000445.5(PLEC):c.6723G>A (p.Ala2241=) rs559736151
NM_000445.5(PLEC):c.6859G>A (p.Asp2287Asn) rs371763907
NM_000445.5(PLEC):c.6922G>A (p.Ala2308Thr) rs200618217
NM_000445.5(PLEC):c.7142C>T (p.Ala2381Val) rs370003608
NM_000445.5(PLEC):c.7301G>A (p.Arg2434Gln) rs782618396
NM_000445.5(PLEC):c.7347C>T (p.Leu2449=) rs117306121
NM_000445.5(PLEC):c.7450C>T (p.Arg2484Cys) rs200652637
NM_000445.5(PLEC):c.7522C>G (p.Gln2508Glu) rs782016209
NM_000445.5(PLEC):c.7807C>T (p.Leu2603=) rs11988293
NM_000445.5(PLEC):c.7902C>T (p.Ala2634=) rs398123402
NM_000445.5(PLEC):c.8131C>T (p.Arg2711Trp) rs35723243
NM_000445.5(PLEC):c.8147G>A (p.Arg2716His) rs782161008
NM_000445.5(PLEC):c.8400C>T (p.Ala2800=) rs34534853
NM_000445.5(PLEC):c.8535C>T (p.Pro2845=) rs782419323
NM_000445.5(PLEC):c.8613G>C (p.Ala2871=) rs782732824
NM_000445.5(PLEC):c.8698G>A (p.Glu2900Lys) rs377748878
NM_000445.5(PLEC):c.8901C>G (p.Asp2967Glu) rs58308209
NM_000445.5(PLEC):c.8926C>T (p.Arg2976Trp) rs202241157
NM_000445.5(PLEC):c.906C>T (p.Asn302=) rs113133985
NM_000445.5(PLEC):c.9081_9082delinsTT (p.Gln3028Ter) rs1554683108
NM_000445.5(PLEC):c.9104G>A (p.Arg3035Gln) rs200176579
NM_000445.5(PLEC):c.9115G>A (p.Glu3039Lys) rs200898220
NM_000445.5(PLEC):c.9152A>G (p.Asn3051Ser) rs535089650
NM_000445.5(PLEC):c.9154G>A (p.Val3052Ile) rs35027700
NM_000445.5(PLEC):c.9197G>A (p.Ser3066Asn) rs374776968
NM_000445.5(PLEC):c.9504C>T (p.Gly3168=) rs61529674
NM_000445.5(PLEC):c.966G>A (p.Met322Ile) rs201041690
NM_000445.5(PLEC):c.978G>A (p.Thr326=) rs377035835
NM_000445.5(PLEC):c.9794C>T (p.Pro3265Leu) rs782085661
NM_000445.5(PLEC):c.9830C>T (p.Thr3277Met) rs201349099
NM_000445.5(PLEC):c.9837G>A (p.Thr3279=) rs782717194
NM_000445.5(PLEC):c.9858T>A (p.Ser3286=) rs34644439
NM_000445.5(PLEC):c.9977G>A (p.Arg3326Gln) rs368318946

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