ClinVar Miner

Variants with conflicting interpretations studied for Tuberous sclerosis syndrome

Coded as:
Minimum review status of the submission for Tuberous sclerosis syndrome: Y axis collection method of the submission for Tuberous sclerosis syndrome:
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
1472 726 15 119 80 0 0 175

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
Tuberous sclerosis syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 3 47 32
likely benign 0 0 27 11 109
benign 0 0 1 8 1

Condition to condition summary #

Total conditions: 13
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 0 193 0 93 45 0 0 130
Tuberous sclerosis 2 0 298 0 76 35 0 0 106
Hereditary cancer-predisposing syndrome 0 205 0 39 25 0 0 64
not provided 0 199 15 36 14 0 0 57
Tuberous sclerosis 1 0 111 0 25 13 0 0 37
Tuberous sclerosis syndrome 2212 158 0 1 2 0 0 3
Focal cortical dysplasia type II 0 190 0 0 2 0 0 2
Focal cortical dysplasia of Taylor type 2B 0 0 0 0 1 0 0 1
Hirschsprung disease 1 0 0 0 0 1 0 0 1
History of neurodevelopmental disorder 0 6 0 0 1 0 0 1
Lymphangiomyomatosis; Tuberous sclerosis 1; Focal cortical dysplasia type II 0 3 0 0 1 0 0 1
Primitive neuroectodermal tumor 0 0 0 0 1 0 0 1
Tuberous sclerosis and lymphangiomyomatosis 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 175
Download table as spreadsheet
HGVS dbSNP
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-35G>A rs370122384
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.-99C>T rs114755636
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1002G>A (p.Ser334=) rs200820603
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2626-6_2626-4dupTTT rs5901000
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000548.3(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.1839+6G>A rs45517204
NM_000548.3(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.3(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.3(TSC2):c.3883+8C>G rs45517316
NM_000548.3(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.3(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.3(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.3(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.3(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.3(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.4(TSC2):c.*26G>A rs13332015
NM_000548.4(TSC2):c.*5G>A rs201342697
NM_000548.4(TSC2):c.-29-10G>C rs28537973
NM_000548.4(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.4(TSC2):c.1257+8C>A rs767392684
NM_000548.4(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.4(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.4(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.4(TSC2):c.1362-9G>A rs763842281
NM_000548.4(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.4(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.4(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.4(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.4(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.4(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.4(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.4(TSC2):c.1600-14C>T rs45517185
NM_000548.4(TSC2):c.167A>G (p.Asn56Ser) rs144165984
NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.4(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.4(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.4(TSC2):c.1836G>A (p.Leu612=) rs758839898
NM_000548.4(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.4(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.4(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.4(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.4(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.4(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.4(TSC2):c.2049C>T (p.Ser683=) rs569518378
NM_000548.4(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.4(TSC2):c.2097+13G>A rs367915255
NM_000548.4(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.4(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.4(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.4(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.4(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.4(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.4(TSC2):c.2355+8G>A rs199558375
NM_000548.4(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.4(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.4(TSC2):c.2546-4G>A rs746958032
NM_000548.4(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.4(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.4(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.4(TSC2):c.2838-4A>G rs45517272
NM_000548.4(TSC2):c.2838-6C>T rs528706539
NM_000548.4(TSC2):c.291C>G (p.Ala97=) rs137933794
NM_000548.4(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.4(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.4(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.4(TSC2):c.3210G>A (p.Thr1070=) rs539927192
NM_000548.4(TSC2):c.3333G>A (p.Lys1111=) rs557648435
NM_000548.4(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.4(TSC2):c.3429C>T (p.Asp1143=) rs45487691
NM_000548.4(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.4(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.4(TSC2):c.3492G>A (p.Ala1164=) rs769562717
NM_000548.4(TSC2):c.3611-10G>A rs372045362
NM_000548.4(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.4(TSC2):c.3777C>T (p.Ser1259=) rs786202178
NM_000548.4(TSC2):c.3815-15G>A rs45480591
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.4(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.4(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.4006-8C>T rs45517325
NM_000548.4(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.4(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.4(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.4(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.4(TSC2):c.4218C>T (p.Asp1406=) rs886051794
NM_000548.4(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.4(TSC2):c.4286C>T (p.Ala1429Val) rs757579310
NM_000548.4(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.4(TSC2):c.4302C>T (p.Gly1434=) rs137854000
NM_000548.4(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.4(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.4(TSC2):c.4569+12C>T rs45517350
NM_000548.4(TSC2):c.482-3C>T rs1800720
NM_000548.4(TSC2):c.4849+13G>A rs780953278
NM_000548.4(TSC2):c.4863C>T (p.Ile1621=) rs142085017
NM_000548.4(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.4(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.4(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999
NM_000548.4(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.4(TSC2):c.4968C>T (p.Asp1656=) rs182327684
NM_000548.4(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.4(TSC2):c.4990-7C>T rs45457095
NM_000548.4(TSC2):c.5025G>A (p.Pro1675=) rs35118875
NM_000548.4(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.4(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.4(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.4(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.4(TSC2):c.5161-10A>C rs1800718
NM_000548.4(TSC2):c.5161-9C>T rs45515893
NM_000548.4(TSC2):c.5260-15C>T rs45517416
NM_000548.4(TSC2):c.5301G>C (p.Leu1767=) rs886051798
NM_000548.4(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064
NM_000548.4(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.4(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.4(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.4(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.4(TSC2):c.552C>T (p.Val184=) rs199991910
NM_000548.4(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.4(TSC2):c.630G>A (p.Ala210=) rs567756494
NM_000548.4(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.4(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.4(TSC2):c.739A>G (p.Ile247Val) rs774526017
NM_000548.4(TSC2):c.848+7G>A rs45442896
NM_000548.4(TSC2):c.856A>G (p.Met286Val) rs1800748

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