ClinVar Miner

Variants in gene combination CFTR, LOC111674475 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
40 17 0 4 6 6 2 15

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 drug response
pathogenic 0 3 1 1 1 6
likely pathogenic 3 0 0 0 0 0
uncertain significance 1 0 0 6 1 0
likely benign 1 0 6 0 1 0
benign 1 0 1 1 0 0
drug response 6 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
NM_000492.3(CFTR):c.1585-19T>C rs778457306
NM_000492.3(CFTR):c.1658G>A (p.Arg553Gln) rs121909044
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) rs193922504
NM_000492.3(CFTR):c.1679+16T>C rs397508262
NM_000492.3(CFTR):c.1679+18G>A rs369294289
NM_000492.3(CFTR):c.1679+9C>G rs775440240
NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1587C>T (p.Asp529=) rs772895745
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207

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