ClinVar Miner

Variants in gene combination LOC126806424, TTN with conflicting interpretations

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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 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
183 29 0 16 20 0 0 33

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 5 0 0 0
likely pathogenic 5 0 0 0 0
uncertain significance 0 0 0 20 3
likely benign 0 0 20 0 11
benign 0 0 3 11 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln) rs374914334 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val) rs371988490 0.00007
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) rs201457934 0.00002
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101 0.00002
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=) rs972823319 0.00001
NM_001267550.2(TTN):c.59812G>A (p.Ala19938Thr) rs755204306 0.00001
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter) rs794729276
NM_001267550.2(TTN):c.59442A>G (p.Pro19814=) rs1304742332
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59965G>A (p.Val19989Ile) rs1021499065
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
NM_001267550.2(TTN):c.60205T>C (p.Cys20069Arg)

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