ClinVar Miner

Variants with conflicting interpretations studied for Imerslund-Grasbeck syndrome

Coded as:
Minimum review status of the submission for Imerslund-Grasbeck syndrome: Collection method of the submission for Imerslund-Grasbeck syndrome:
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
1620 11 2 11 4 0 8 24

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.

All conditions
Imerslund-Grasbeck syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 11 4 0 0
likely pathogenic 11 2 3 0 2
uncertain significance 4 3 0 1 3
likely benign 0 0 1 0 0
benign 0 2 3 0 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Imerslund-Grasbeck syndrome 1620 11 2 11 4 0 8 24

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.348+2T>C rs146047781 0.00012
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615 0.00001
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_030943.4(AMN):c.1006+34_1007-31del rs386834161
NM_030943.4(AMN):c.1314_1315del (p.His438fs) rs386834167
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.208-1G>C rs386834169
NM_030943.4(AMN):c.514-34G>A rs144077391
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.