ClinVar Miner

Variants in gene CDT1 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
71 15 0 12 6 0 0 18

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 5 1
likely benign 5 0 12
benign 1 12 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_030928.4(CDT1):c.1179G>C (p.Gly393=) rs74035837
NM_030928.4(CDT1):c.1221G>A (p.Pro407=) rs74035838
NM_030928.4(CDT1):c.1377C>T (p.Arg459=) rs3218730
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) rs141663679
NM_030928.4(CDT1):c.1500G>T (p.Leu500=) rs3218720
NM_030928.4(CDT1):c.1546C>T (p.Arg516Cys) rs144721725
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val) rs144843732
NM_030928.4(CDT1):c.243T>C (p.Ser81=) rs475667
NM_030928.4(CDT1):c.514C>T (p.Arg172Cys) rs3218727
NM_030928.4(CDT1):c.549A>G (p.Gly183=) rs1834065
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser) rs145552478
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329
NM_030928.4(CDT1):c.738C>T (p.Ser246=) rs200892812
NM_030928.4(CDT1):c.758G>A (p.Arg253His) rs148337159
NM_030928.4(CDT1):c.75G>T (p.Leu25=) rs765888738
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862

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