ClinVar Miner

Variants in gene ABCA3 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
258 17 0 6 11 0 1 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 9 4
likely benign 0 0 9 0 5
benign 0 0 4 5 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127

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