ClinVar Miner

Variants with conflicting interpretations studied for Transcobalamin II deficiency

Coded as:
Minimum review status of the submission for Transcobalamin II deficiency: Collection method of the submission for Transcobalamin II deficiency:
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
558 33 0 11 17 0 1 26

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
Transcobalamin II deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 15 5
likely benign 0 0 15 0 10
benign 0 0 5 10 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
Transcobalamin II deficiency 558 33 0 11 17 0 1 26

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_000355.4(TCN2):c.64+11C>T rs141519384 0.00203
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 0.00026
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_000355.4(TCN2):c.522C>T (p.Ser174=) rs537115632 0.00021
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415 0.00019
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742 0.00003
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377 0.00001
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898

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