ClinVar Miner

Variants with conflicting interpretations studied for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY

Coded as:
Minimum review status of the submission for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY: Y axis collection method of the submission for GLUTAMATE FORMIMINOTRANSFERASE 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 Variants with at least 2 submissions 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 kind of conflict
55 11 0 13 8 0 2 22

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
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 1 0 2 0 0
uncertain significance 0 1 0 5 3
likely benign 0 0 1 0 12
benign 0 0 3 2 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Collagen VI-related myopathy 0 6 0 6 4 0 0 10
Myosclerosis 0 6 0 6 4 0 0 10
not specified 0 4 0 9 0 0 0 9
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 78 2 0 3 4 0 1 8
Bethlem myopathy 1 0 0 0 3 0 0 0 3
not provided 0 3 0 3 0 0 1 3

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001849.3(COL6A2):c.*116T>C rs3087667
NM_001849.3(COL6A2):c.*119A>G rs1043962
NM_001849.3(COL6A2):c.2592G>A (p.Thr864=) rs1042930
NM_001849.3(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026
NM_001849.3(COL6A2):c.2979C>T (p.Arg993=) rs6652
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483
NM_006657.3(FTCD):c.*127C>A rs538433909
NM_006657.3(FTCD):c.*15C>A rs114980528
NM_006657.3(FTCD):c.*67C>T rs139773262
NM_206965.2(FTCD):c.1220C>A (p.Thr407Lys) rs148920158
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val) rs61735841
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734
NM_206965.2(FTCD):c.1409G>A (p.Arg470Gln) rs61735839
NM_206965.2(FTCD):c.1443+9del rs372045405
NM_206965.2(FTCD):c.1540-17_1540-16del rs747091513
NM_206965.2(FTCD):c.378C>T (p.Tyr126=) rs374724805
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys) rs61729373
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237
NM_206965.2(FTCD):c.906+15C>T rs76474184
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234

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