ClinVar Miner

Variants in gene GRN with conflicting interpretations

See also:
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
570 51 0 16 4 1 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 affects risk factor
pathogenic 0 2 0 0 0 0 0
likely pathogenic 2 0 0 0 0 0 0
uncertain significance 0 0 0 3 3 0 0
likely benign 0 0 3 0 14 0 0
benign 0 0 3 14 0 1 1
affects 0 0 0 0 1 0 1
risk factor 0 0 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_002087.4(GRN):c.546G>A (p.Thr182=) rs138473783 0.00335
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_002087.4(GRN):c.228C>T (p.Thr76=) rs144736470 0.00086
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_002087.4(GRN):c.253C>G (p.Pro85Ala) rs143560849 0.00058
NM_002087.3(GRN):c.-45C>G rs563336550 0.00057
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) rs149180605 0.00052
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_002087.4(GRN):c.1742A>T (p.Asp581Val) rs768223928 0.00007
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) rs1555611293
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742

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