ClinVar Miner

Variants in gene combination RTEL1, RTEL1-TNFRSF6B 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 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
245 27 0 13 5 0 8 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 6 0 0
likely pathogenic 7 0 2 0 0
uncertain significance 6 2 0 3 2
likely benign 0 0 3 0 6
benign 0 0 2 6 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_001283009.1(RTEL1):c.3693G>A (p.Thr1231=) rs181080831
NM_001283009.1(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_016434.3(RTEL1):c.1260C>T (p.Ser420=) rs188479221
NM_016434.3(RTEL1):c.1349-9G>A rs772899702
NM_016434.3(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_016434.3(RTEL1):c.1476G>T (p.Met492Ile) rs370343781
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645
NM_016434.3(RTEL1):c.2141+5G>A rs398123050
NM_016434.3(RTEL1):c.2216G>T (p.Gly739Val) rs398123016
NM_016434.3(RTEL1):c.2310_2312AGA[1] (p.Glu771del) rs558133631
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_016434.3(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884
NM_016434.3(RTEL1):c.2775C>T (p.Ser925=) rs12480346
NM_016434.3(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_016434.3(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018
NM_016434.3(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632
NM_016434.3(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660
NM_016434.3(RTEL1):c.3615C>T (p.Ser1205=) rs797045923
NM_016434.3(RTEL1):c.3653-5C>G rs141522376
NM_016434.3(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_016434.3(RTEL1):c.973C>T (p.Leu325=) rs142739953
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032957.4(RTEL1):c.3495G>A (p.Pro1165=) rs41306796
NM_032957.4(RTEL1):c.442C>T (p.Arg148Ter) rs80224512

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