ClinVar Miner

Variants in gene VCAN 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
491 159 0 7 7 0 0 14

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 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 5 2
likely benign 0 0 5 0 6
benign 0 0 2 6 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_004385.5(VCAN):c.1458G>T (p.Ser486=) rs150735474
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn) rs143368552
NM_004385.5(VCAN):c.2234A>C (p.Lys745Thr) rs144502710
NM_004385.5(VCAN):c.2618T>G (p.Ile873Arg) rs150395515
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln) rs143393049
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=) rs35648048
NM_004385.5(VCAN):c.5750A>T (p.Tyr1917Phe) rs141477510
NM_004385.5(VCAN):c.6237G>A (p.Lys2079=) rs80200229
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) rs146630369
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=) rs727504214
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=) rs61754536
NM_004385.5(VCAN):c.9265+1G>T rs80356553
NM_004385.5(VCAN):c.927T>C (p.Thr309=) rs536465380

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