ClinVar Miner

Variants in gene RBM20 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
363 78 0 32 48 0 5 75

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 3 0 4 1 0
uncertain significance 1 4 0 43 14
likely benign 0 1 43 0 29
benign 0 0 14 29 0

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NM_001134363.1(RBM20):c.2303G>C (p.Ser768=) rs1417635
NM_001134363.1(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.1(RBM20):c.57G>T (p.Pro19=) rs781263787
NM_001134363.2(RBM20):c.1053C>T (p.Asp351=) rs192232825
NM_001134363.2(RBM20):c.1093G>A (p.Gly365Arg) rs201047984
NM_001134363.2(RBM20):c.1135G>A (p.Gly379Arg) rs199842148
NM_001134363.2(RBM20):c.1179C>T (p.Pro393=) rs200588338
NM_001134363.2(RBM20):c.1275+13A>G rs373230569
NM_001134363.2(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.2(RBM20):c.128_130dupAGC (p.Gln43_Pro44insGln) rs397516593
NM_001134363.2(RBM20):c.1338-11G>A rs372064165
NM_001134363.2(RBM20):c.1356A>T (p.Ile452=) rs745544964
NM_001134363.2(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.2(RBM20):c.1378T>C (p.Leu460=) rs374014662
NM_001134363.2(RBM20):c.1429+10G>T rs778742738
NM_001134363.2(RBM20):c.150A>T (p.Pro50=) rs376936285
NM_001134363.2(RBM20):c.1527+8C>T rs7077757
NM_001134363.2(RBM20):c.1529T>C (p.Phe510Ser) rs372567331
NM_001134363.2(RBM20):c.1602C>T (p.Asp534=) rs76048624
NM_001134363.2(RBM20):c.1633G>A (p.Val545Ile) rs397516596
NM_001134363.2(RBM20):c.1801-11G>C rs12572941
NM_001134363.2(RBM20):c.1881-3C>T rs138436392
NM_001134363.2(RBM20):c.1898C>T (p.Pro633Leu)
NM_001134363.2(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.2(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.2(RBM20):c.1906C>T (p.Arg636Cys) rs267607002
NM_001134363.2(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001134363.2(RBM20):c.1914G>A (p.Pro638=) rs74339620
NM_001134363.2(RBM20):c.1922G>A (p.Arg641Gln) rs143785916
NM_001134363.2(RBM20):c.1986G>A (p.Pro662=) rs537723089
NM_001134363.2(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001134363.2(RBM20):c.2069C>T (p.Pro690Leu) rs550942448
NM_001134363.2(RBM20):c.2116C>A (p.Pro706Thr) rs373797219
NM_001134363.2(RBM20):c.2145C>T (p.Pro715=) rs764304126
NM_001134363.2(RBM20):c.2201G>A (p.Arg734Gln) rs372923744
NM_001134363.2(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.2(RBM20):c.2244T>G (p.Ser748=) rs727503388
NM_001134363.2(RBM20):c.2318A>G (p.Lys773Arg) rs181769913
NM_001134363.2(RBM20):c.2452G>T (p.Ala818Ser) rs200271618
NM_001134363.2(RBM20):c.2655+15A>G rs187915202
NM_001134363.2(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.2(RBM20):c.280C>T (p.Leu94=) rs182768779
NM_001134363.2(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.2(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392
NM_001134363.2(RBM20):c.3144C>T (p.Ser1048=) rs75858380
NM_001134363.2(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898
NM_001134363.2(RBM20):c.3177A>G (p.Pro1059=) rs562290651
NM_001134363.2(RBM20):c.3261_3262delCCinsG (p.Ser1087Argfs) rs727504763
NM_001134363.2(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001134363.2(RBM20):c.3331G>A (p.Val1111Met) rs77110978
NM_001134363.2(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.2(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.2(RBM20):c.3452-10C>T rs60618533
NM_001134363.2(RBM20):c.3452-9G>C rs7070640
NM_001134363.2(RBM20):c.3504G>A (p.Leu1168=) rs377742289
NM_001134363.2(RBM20):c.3513G>A (p.Thr1171=) rs184312864
NM_001134363.2(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134363.2(RBM20):c.3574-6C>G rs762069628
NM_001134363.2(RBM20):c.3574-7T>G rs397516616
NM_001134363.2(RBM20):c.3623C>T (p.Ala1208Val) rs397516618
NM_001134363.2(RBM20):c.3648C>T (p.Ser1216=) rs554167951
NM_001134363.2(RBM20):c.3667G>C (p.Glu1223Gln) rs942077
NM_001134363.2(RBM20):c.448G>A (p.Ala150Thr) rs199868951
NM_001134363.2(RBM20):c.488G>A (p.Arg163Gln) rs794729139
NM_001134363.2(RBM20):c.517C>A (p.Pro173Thr) rs7908490
NM_001134363.2(RBM20):c.529A>T (p.Thr177Ser) rs397516621
NM_001134363.2(RBM20):c.530C>T (p.Thr177Ile) rs183130427
NM_001134363.2(RBM20):c.680G>T (p.Gly227Val) rs202238753
NM_001134363.2(RBM20):c.695G>A (p.Gly232Asp) rs61735268
NM_001134363.2(RBM20):c.774G>A (p.Ser258=) rs569846404
NM_001134363.2(RBM20):c.849C>T (p.Tyr283=) rs187423999
NM_001134363.2(RBM20):c.90G>A (p.Arg30=) rs35141404
NM_001134363.2(RBM20):c.954A>G (p.Gln318=) rs766779254
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.