ClinVar Miner

Variants with conflicting interpretations studied for PLEC-related disorder

Minimum review status of the submission for PLEC-related disorder: Collection method of the submission for PLEC-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
91 103 0 54 137 0 0 176

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
PLEC-related disorder uncertain significance likely benign benign
uncertain significance 0 20 1
likely benign 115 0 35
benign 2 19 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition 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
not provided 0 103 0 29 133 0 0 157
not specified 0 76 0 39 14 0 0 51
PLEC-related epidermolysis bullosa 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 176
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201378.4(PLEC):c.71-11718C>T rs190222339 0.00712
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00655
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00650
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00549
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp) rs142805337 0.00374
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106 0.00326
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly) rs183111586 0.00270
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys) rs75857070 0.00241
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00206
NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys) rs187338487 0.00183
NM_201384.3(PLEC):c.1042-4A>G rs112966803 0.00166
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile) rs190470017 0.00158
NM_201384.3(PLEC):c.2551G>A (p.Val851Met) rs200647397 0.00153
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) rs200239963 0.00153
NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) rs202040785 0.00146
NM_201384.3(PLEC):c.8509G>A (p.Glu2837Lys) rs199661077 0.00146
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=) rs201102719 0.00145
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) rs201574539 0.00143
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=) rs183401234 0.00141
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg) rs201655861 0.00141
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys) rs187011732 0.00132
NM_201384.3(PLEC):c.12876G>A (p.Val4292=) rs199509259 0.00129
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220 0.00123
NM_201384.3(PLEC):c.8201C>T (p.Ala2734Val) rs200202579 0.00118
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln) rs200488179 0.00116
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) rs551187778 0.00110
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) rs202132558 0.00108
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=) rs199612329 0.00101
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=) rs374211586 0.00100
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) rs187648086 0.00089
NM_201384.3(PLEC):c.2508G>A (p.Pro836=) rs116385960 0.00086
NM_201384.3(PLEC):c.10656G>A (p.Val3552=) rs368312695 0.00084
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp) rs145977158 0.00084
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) rs146685404 0.00082
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) rs542642242 0.00078
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) rs200061415 0.00076
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr) rs200173947 0.00074
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) rs200206105 0.00073
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys) rs868906137 0.00073
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) rs117962829 0.00068
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met) rs200611519 0.00066
NM_201384.3(PLEC):c.6021G>A (p.Ala2007=) rs200338935 0.00062
NM_201378.4(PLEC):c.71-11923G>A rs200842821 0.00056
NM_201384.3(PLEC):c.13509C>T (p.Arg4503=) rs190789703 0.00056
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 0.00055
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr) rs201657125 0.00052
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=) rs373341589 0.00052
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=) rs199879193 0.00051
NM_201384.3(PLEC):c.540C>T (p.Cys180=) rs189256993 0.00051
NM_201384.3(PLEC):c.3354G>A (p.Val1118=) rs375657597 0.00050
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=) rs373958891 0.00049
NM_201384.3(PLEC):c.8496C>T (p.Arg2832=) rs369013440 0.00048
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=) rs185082202 0.00046
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=) rs375590561 0.00046
NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn) rs199833127 0.00044
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=) rs375465011 0.00044
NM_201384.3(PLEC):c.7062G>A (p.Ala2354=) rs375587611 0.00043
NM_201384.3(PLEC):c.963C>T (p.Phe321=) rs368425406 0.00042
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) rs200541837 0.00041
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=) rs35821434 0.00040
NM_201384.3(PLEC):c.759C>T (p.Thr253=) rs377118309 0.00038
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=) rs368326361 0.00036
NM_201384.3(PLEC):c.8442C>T (p.Gly2814=) rs186703073 0.00035
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=) rs372858742 0.00033
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu) rs201373953 0.00032
NM_201384.3(PLEC):c.6495G>A (p.Ala2165=) rs201462310 0.00032
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser) rs189233521 0.00031
NM_201384.3(PLEC):c.47G>A (p.Arg16Gln) rs202012068 0.00031
NM_201384.3(PLEC):c.2736C>G (p.Ala912=) rs558031489 0.00029
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val) rs367715805 0.00029
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr) rs200924154 0.00026
NM_201384.3(PLEC):c.3831C>T (p.Asn1277=) rs202217053 0.00026
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met) rs191036710 0.00026
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) rs782439290 0.00025
NM_201384.3(PLEC):c.7339C>T (p.Arg2447Cys) rs781936848 0.00025
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys) rs201069314 0.00024
NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) rs534045685 0.00024
NM_201384.3(PLEC):c.5149C>T (p.Arg1717Trp) rs192022872 0.00024
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val) rs370003608 0.00023
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=) rs375097273 0.00021
NM_201384.3(PLEC):c.2785C>T (p.Leu929=) rs369676162 0.00021
NM_201384.3(PLEC):c.7686C>T (p.Ala2562=) rs534269714 0.00021
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys) rs200128670 0.00021
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) rs574482100 0.00020
NM_201384.3(PLEC):c.12216C>T (p.Phe4072=) rs150427959 0.00019
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=) rs376081492 0.00019
NM_201384.3(PLEC):c.12564C>T (p.Gly4188=) rs140191309 0.00018
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_201384.3(PLEC):c.10521C>T (p.Asp3507=) rs201905804 0.00017
NM_201384.3(PLEC):c.11823C>T (p.Asp3941=) rs201426199 0.00016
NM_201384.3(PLEC):c.12444G>A (p.Thr4148=) rs143548638 0.00016
NM_201384.3(PLEC):c.2535C>T (p.Ser845=) rs199721954 0.00016
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val) rs200949161 0.00016
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His) rs377610697 0.00016
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507 0.00015
NM_201384.3(PLEC):c.10472G>A (p.Arg3491His) rs374469690 0.00015
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=) rs531535217 0.00015
NM_201384.3(PLEC):c.6399G>A (p.Ala2133=) rs375489890 0.00015
NM_201384.3(PLEC):c.897G>A (p.Thr299=) rs377035835 0.00015
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys) rs781836500 0.00014
NM_201384.3(PLEC):c.1283C>T (p.Ala428Val) rs200893203 0.00014
NM_201384.3(PLEC):c.1305G>A (p.Ala435=) rs369877618 0.00014
NM_201384.3(PLEC):c.4587C>T (p.Arg1529=) rs369723574 0.00014
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=) rs564245730 0.00013
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His) rs368343687 0.00013
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu) rs376494828 0.00012
NM_201384.3(PLEC):c.2064G>A (p.Pro688=) rs374590279 0.00011
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00011
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=) rs537994918 0.00010
NM_201384.3(PLEC):c.113-6C>T rs782235036 0.00009
NM_201384.3(PLEC):c.12783C>T (p.Ala4261=) rs377524932 0.00009
NM_201384.3(PLEC):c.792C>T (p.Arg264=) rs782391508 0.00009
NM_201384.3(PLEC):c.2829G>A (p.Ala943=) rs369370495 0.00008
NM_201384.3(PLEC):c.342+7C>T rs367808541 0.00008
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=) rs782222671 0.00008
NM_201384.3(PLEC):c.5469C>T (p.Asp1823=) rs771101893 0.00008
NM_201384.3(PLEC):c.10697C>T (p.Ala3566Val) rs782700068 0.00006
NM_201384.3(PLEC):c.11721G>A (p.Thr3907=) rs371520192 0.00006
NM_201384.3(PLEC):c.13401C>T (p.Ala4467=) rs782114678 0.00006
NM_201384.3(PLEC):c.1816-7C>G rs201141391 0.00006
NM_201384.3(PLEC):c.21C>T (p.Arg7=) rs550636795 0.00006
NM_201384.3(PLEC):c.3009C>T (p.Thr1003=) rs376276993 0.00006
NM_201384.3(PLEC):c.4293G>A (p.Ala1431=) rs782198489 0.00006
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) rs554561043 0.00006
NM_201384.3(PLEC):c.12978C>T (p.Thr4326=) rs781832846 0.00005
NM_201384.3(PLEC):c.3873G>A (p.Ala1291=) rs374669316 0.00005
NM_201384.3(PLEC):c.11421C>T (p.Gly3807=) rs782144786 0.00004
NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser) rs782123116 0.00004
NM_201384.3(PLEC):c.13596C>T (p.Ala4532=) rs781917029 0.00004
NM_201384.3(PLEC):c.6204G>A (p.Thr2068=) rs979599396 0.00004
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys) rs782713908 0.00004
NM_201384.3(PLEC):c.6427G>A (p.Glu2143Lys) rs782305250 0.00004
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) rs549882307 0.00003
NM_201384.3(PLEC):c.3784G>A (p.Gly1262Ser) rs782158050 0.00003
NM_201384.3(PLEC):c.3955C>T (p.Leu1319=) rs201416081 0.00003
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln) rs782618396 0.00003
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys) rs377125427 0.00002
NM_201384.3(PLEC):c.678G>A (p.Ala226=) rs782369854 0.00002
NM_201384.3(PLEC):c.8320G>A (p.Val2774Ile) rs782359700 0.00002
NM_201384.3(PLEC):c.10359G>A (p.Lys3453=) rs782140099 0.00001
NM_201384.3(PLEC):c.10830C>T (p.Ala3610=) rs80304210 0.00001
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=) rs782692436 0.00001
NM_201384.3(PLEC):c.3081+9C>T rs371983298 0.00001
NM_201384.3(PLEC):c.6012G>C (p.Arg2004=) rs782708058 0.00001
NM_201384.3(PLEC):c.9130C>T (p.Leu3044=) rs782038680 0.00001
NM_201378.4(PLEC):c.-20CGCGCCC[3]
NM_201378.4(PLEC):c.71-11710G>A rs200335928
NM_201378.4(PLEC):c.71-3797C>G rs190108480
NM_201378.4(PLEC):c.71-5077G>T rs73377225
NM_201384.3(PLEC):c.1002C>T (p.Ala334=) rs370574829
NM_201384.3(PLEC):c.10296C>A (p.Ala3432=) rs201848957
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) rs373863249
NM_201384.3(PLEC):c.11724G>T (p.Ala3908=) rs374595008
NM_201384.3(PLEC):c.1191C>A (p.Ile397=) rs781888321
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=) rs185022156
NM_201384.3(PLEC):c.13347G>A (p.Ala4449=) rs368660987
NM_201384.3(PLEC):c.1418+10G>C rs782571969
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) rs202190540
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met) rs201588551
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) rs886044784
NM_201384.3(PLEC):c.6531G>A (p.Thr2177=) rs782621816
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) rs376112916
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155
NM_201384.3(PLEC):c.9081G>A (p.Ala3027=) rs199758196

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