ClinVar Miner

Variants with conflicting interpretations between SIB Swiss Institute of Bioinformatics and 3billion

Minimum review status of the submission from SIB Swiss Institute of Bioinformatics: Collection method of the submission from SIB Swiss Institute of Bioinformatics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
2 22 0 16 0 0 1 17

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
likely pathogenic 16 0
uncertain significance 0 1

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00003
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) rs1565962725
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln) rs1555731980
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798

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