ClinVar Miner

Variants with conflicting interpretations studied for MSH6-related disorder

Minimum review status of the submission for MSH6-related disorder: Collection method of the submission for MSH6-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
15 84 0 45 88 0 2 126

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
MSH6-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 0 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 0 1 0 51 13
likely benign 1 1 26 0 33
benign 0 0 1 1 0

Condition to condition summary #

Total conditions: 12
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
Hereditary nonpolyposis colorectal neoplasms 0 124 0 15 62 0 1 78
not provided 0 101 0 32 44 0 1 72
not specified 0 74 0 23 30 0 0 48
Breast and/or ovarian cancer 0 24 0 0 4 0 0 4
Colorectal / endometrial cancer 0 0 0 0 1 0 0 1
Colorectal cancer, non-polyposis 0 0 0 0 1 0 0 1
Hereditary cancer 0 2 0 0 1 0 0 1
Inherited MMR deficiency (Lynch syndrome) 0 3 0 1 0 0 0 1
Inherited ovarian cancer (without breast cancer) 0 0 0 0 1 0 0 1
Inherited prostate cancer 0 1 0 1 0 0 0 1
Lynch-like syndrome 0 4 0 0 0 0 1 1
See cases 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000179.3(MSH6):c.4001+39C>G rs201482798 0.00063
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) rs3136334 0.00033
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00030
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00027
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00017
NM_000179.3(MSH6):c.2925C>T (p.Asn975=) rs139026662 0.00016
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro) rs763702846 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=) rs587780675 0.00009
NM_000179.3(MSH6):c.3439-10T>A rs730881819 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg) rs150440246 0.00009
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388 0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys) rs544222338 0.00006
NM_000179.3(MSH6):c.16A>C (p.Thr6Pro) rs200944853 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser) rs373721483 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00005
NM_000179.3(MSH6):c.1068T>C (p.Gly356=) rs749752524 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys) rs369456858 0.00004
NM_000179.3(MSH6):c.1776A>T (p.Val592=) rs56132616 0.00004
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr) rs190075874 0.00004
NM_000179.3(MSH6):c.3557-3A>T rs41295274 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=) rs2229018 0.00004
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000179.3(MSH6):c.-6G>C rs730881822 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val) rs587782331 0.00003
NM_000179.3(MSH6):c.1053C>T (p.His351=) rs28903083 0.00003
NM_000179.3(MSH6):c.1120_1122del (p.Lys374del) rs587781660 0.00003
NM_000179.3(MSH6):c.1167C>T (p.Pro389=) rs1042819 0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys) rs143517321 0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=) rs747771350 0.00003
NM_000179.3(MSH6):c.1082G>A (p.Arg361His) rs63750440 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr) rs779411998 0.00002
NM_000179.3(MSH6):c.190G>C (p.Ala64Pro) rs587779921 0.00002
NM_000179.3(MSH6):c.2241G>A (p.Leu747=) rs377722465 0.00002
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr) rs774774596 0.00002
NM_000179.3(MSH6):c.2830A>G (p.Ile944Val) rs878853723 0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=) rs730881823 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=) rs540252208 0.00002
NM_000179.3(MSH6):c.3801+4T>C rs758830540 0.00002
NM_000179.3(MSH6):c.81C>G (p.Ala27=) rs781496151 0.00002
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys) rs776859837 0.00002
NM_000179.3(MSH6):c.*11T>C rs757708396 0.00001
NM_000179.3(MSH6):c.*4_*6dup rs1451012329 0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.1211A>G (p.Asn404Ser) rs768740986 0.00001
NM_000179.3(MSH6):c.1403G>A (p.Arg468His) rs41295268 0.00001
NM_000179.3(MSH6):c.1554C>T (p.Thr518=) rs786201471 0.00001
NM_000179.3(MSH6):c.1740G>A (p.Ser580=) rs762089407 0.00001
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser) rs876661043 0.00001
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg) rs143643688 0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=) rs267608071 0.00001
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr) rs143520357 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu) rs747802641 0.00001
NM_000179.3(MSH6):c.3465G>T (p.Gln1155His) rs766817979 0.00001
NM_000179.3(MSH6):c.3560A>G (p.Glu1187Gly) rs150632241 0.00001
NM_000179.3(MSH6):c.3966A>T (p.Glu1322Asp) rs1064794745 0.00001
NM_000179.3(MSH6):c.4012C>T (p.Leu1338=) rs1060504743 0.00001
NM_000179.3(MSH6):c.4033G>A (p.Val1345Ile) rs747613376 0.00001
NM_000179.3(MSH6):c.526A>G (p.Met176Val) rs750327994 0.00001
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser) rs369568820 0.00001
NM_000179.3(MSH6):c.*24_*28del rs587779200
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1392del (p.Ile464fs) rs2104340974
NM_000179.3(MSH6):c.1481C>T (p.Ala494Val) rs1264762735
NM_000179.3(MSH6):c.1729C>G (p.Arg577Gly) rs542838372
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.1871G>T (p.Gly624Val) rs763606858
NM_000179.3(MSH6):c.1946A>G (p.Asp649Gly) rs777799551
NM_000179.3(MSH6):c.1961T>C (p.Met654Thr) rs761433489
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.3(MSH6):c.2146A>G (p.Thr716Ala) rs749711246
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg) rs35552856
NM_000179.3(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2413A>G (p.Ile805Val) rs928923556
NM_000179.3(MSH6):c.2482G>A (p.Val828Ile) rs587781349
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs) rs1572728112
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter) rs1114167707
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.3(MSH6):c.3220A>G (p.Met1074Val) rs730881804
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr) rs63750998
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met) rs63750442
NM_000179.3(MSH6):c.3465G>C (p.Gln1155His) rs766817979
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=) rs545552712
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala) rs202066386
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln) rs184131049
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000179.3(MSH6):c.4002-8dup rs267608139
NM_000179.3(MSH6):c.4068G>A (p.Leu1356=) rs192740549
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.457+32TG[9] rs397839804
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079

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