ClinVar Miner

Variants in gene combination TBCEL-TECTA, TECTA 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 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
322 64 0 13 10 0 0 22

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 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 9 2
likely benign 0 0 9 0 11
benign 0 0 2 11 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_005422.2(TECTA):c.-13T>C rs145916279
NM_005422.2(TECTA):c.1461A>G (p.Gly487=) rs202127508
NM_005422.2(TECTA):c.1572C>T (p.Cys524=) rs767426110
NM_005422.2(TECTA):c.1812C>T (p.Ser604=) rs138914618
NM_005422.2(TECTA):c.1834G>A (p.Asp612Asn) rs143730090
NM_005422.2(TECTA):c.2418G>A (p.Leu806=) rs138185038
NM_005422.2(TECTA):c.2604G>T (p.Thr868=) rs139509847
NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386
NM_005422.2(TECTA):c.33C>A (p.Val11=) rs140393508
NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.2(TECTA):c.4061C>T (p.Thr1354Ile) rs148440178
NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531
NM_005422.2(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158
NM_005422.2(TECTA):c.487-7C>G rs368627411
NM_005422.2(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005422.2(TECTA):c.6250+4T>C rs143302176
NM_005422.2(TECTA):c.6458C>T (p.Thr2153Met) rs146965680
NM_005422.2(TECTA):c.701A>G (p.Gln234Arg) rs144682235
NM_005422.2(TECTA):c.972G>C (p.Val324=) rs147790742
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033

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