ClinVar Miner

Variants in gene AFG3L2 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
88 9 9 10 2 0 0 20

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 9 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 2 0
likely benign 0 0 2 0 8
benign 0 0 0 8 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
NM_006796.2(AFG3L2):c.-32C>T rs556432963
NM_006796.2(AFG3L2):c.1026+8G>A rs8091858
NM_006796.2(AFG3L2):c.114+12C>T rs758470020
NM_006796.2(AFG3L2):c.1295A>C (p.Asn432Thr) rs151344512
NM_006796.2(AFG3L2):c.1389G>A (p.Leu463=) rs11080572
NM_006796.2(AFG3L2):c.1426+9A>T rs377339236
NM_006796.2(AFG3L2):c.1650A>G (p.Glu550=) rs11553521
NM_006796.2(AFG3L2):c.1664-9T>C rs200476229
NM_006796.2(AFG3L2):c.1847A>G (p.Tyr616Cys) rs387906889
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.2(AFG3L2):c.1997T>G (p.Met666Arg) rs151344515
NM_006796.2(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_006796.2(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu) rs151344519
NM_006796.2(AFG3L2):c.2071G>A (p.Glu691Lys) rs151344520
NM_006796.2(AFG3L2):c.2081C>A (p.Ala694Glu) rs151344521
NM_006796.2(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523
NM_006796.2(AFG3L2):c.293-14_293-13delTT rs556473698
NM_006796.2(AFG3L2):c.498C>T (p.Ser166=) rs141538541
NM_006796.2(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021

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