ClinVar Miner

Variants in gene MARVELD2 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
82 5 0 8 7 0 0 13

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 3 0 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 0 0 0 7 2
likely benign 0 0 7 0 5
benign 0 0 2 5 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met) rs727503158
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561
NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) rs140764671
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607
NM_001038603.3(MARVELD2):c.615C>T (p.Ala205=) rs146796266
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809

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