ClinVar Miner

Variants in gene NCF2 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
538 22 0 8 14 0 3 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 uncertain significance likely benign benign
pathogenic 0 2 1 1
uncertain significance 2 0 11 5
likely benign 1 11 0 8
benign 1 5 8 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) rs35937854 0.01284
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) rs55761650 0.00401
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys) rs115365142 0.00260
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00169
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_000433.4(NCF2):c.836C>T (p.Thr279Met) rs13306581 0.00088
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390 0.00078
NM_000433.4(NCF2):c.1179-4C>G rs55795842 0.00066
NM_000433.4(NCF2):c.93C>T (p.Ala31=) rs143889676 0.00039
NM_000433.4(NCF2):c.298C>G (p.Gln100Glu) rs119103276 0.00019
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln) rs142803799 0.00014
NM_000433.4(NCF2):c.636C>T (p.Asp212=) rs774027102 0.00004
NM_000433.4(NCF2):c.837G>A (p.Thr279=) rs942486247 0.00003
NM_000433.4(NCF2):c.196C>A (p.Arg66=) rs750782115 0.00002
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln) rs119103275 0.00001
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000433.4(NCF2):c.1291-15C>G rs886045654
NM_000433.4(NCF2):c.1A>T (p.Met1Leu) rs780810631
NM_000433.4(NCF2):c.918G>A (p.Gln306=) rs535561432

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