ClinVar Miner

Variants in gene combination LOC101927055, 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
144 14 0 9 17 0 0 26

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.

uncertain significance likely benign benign
uncertain significance 0 16 1
likely benign 16 0 9
benign 1 9 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=) rs368702156
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) rs771294359
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro) rs115303497
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr) rs531590921
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln) rs147254212
NM_001267550.2(TTN):c.4641G>T (p.Val1547=) rs1012929202
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala) rs199910114
NM_133379.5(TTN):c.3913G>T (p.Gly1305Trp) rs199889888
NM_133379.5(TTN):c.3989G>A (p.Arg1330His) rs761402128
NM_133379.5(TTN):c.4076A>G (p.Glu1359Gly) rs370978752
NM_133379.5(TTN):c.4081A>C (p.Ile1361Leu) rs145308734
NM_133379.5(TTN):c.4150G>T (p.Ala1384Ser) rs144609506
NM_133379.5(TTN):c.4153G>A (p.Ala1385Thr) rs140760859
NM_133379.5(TTN):c.4177A>G (p.Ile1393Val) rs16866531
NM_133379.5(TTN):c.4199G>C (p.Ser1400Thr) rs138506461
NM_133379.5(TTN):c.4246C>T (p.Arg1416Cys) rs72647875
NM_133379.5(TTN):c.4261C>T (p.Arg1421Trp) rs144672482
NM_133379.5(TTN):c.4291C>T (p.Arg1431Trp) rs139636676
NM_133379.5(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_133379.5(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_133379.5(TTN):c.4359A>T (p.Arg1453Ser) rs376857956
NM_133379.5(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_133379.5(TTN):c.4630A>G (p.Ile1544Val) rs72647877
NM_133379.5(TTN):c.4715G>A (p.Arg1572Gln) rs12476289
NM_133379.5(TTN):c.4739C>T (p.Thr1580Met) rs73973147

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