ClinVar Miner

Variants with conflicting interpretations studied for Congenital Muscular Dystrophy, ITGA7-related

Coded as:
Minimum review status of the submission for Congenital Muscular Dystrophy, ITGA7-related: Y axis collection method of the submission for Congenital Muscular Dystrophy, ITGA7-related:
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
29 8 0 2 23 0 0 25

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
Congenital Muscular Dystrophy, ITGA7-related likely benign benign
uncertain significance 21 17
likely benign 0 2

Condition to condition summary #

Total conditions: 3
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
not specified 0 4 0 2 19 0 0 21
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 0 5 0 0 19 0 0 19
not provided 0 7 0 0 6 0 0 6

All variants with conflicting interpretations #

Total variants: 25
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HGVS dbSNP
NM_001144996.1(ITGA7):c.1011-4A>G rs370741662
NM_002206.3(ITGA7):c.1281+13G>A rs143895796
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=) rs200714716
NM_002206.3(ITGA7):c.1506-14C>T rs148374832
NM_002206.3(ITGA7):c.1567+8C>T rs755842392
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050
NM_002206.3(ITGA7):c.1659C>G (p.Pro553=) rs144052152
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg) rs150583010
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) rs148641361
NM_002206.3(ITGA7):c.2433-5G>A rs79745402
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002206.3(ITGA7):c.2737C>T (p.Arg913Trp) rs140030984
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=) rs17117883
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=) rs17117879
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949
NM_002206.3(ITGA7):c.415-10C>T rs11171661
NM_002206.3(ITGA7):c.69C>T (p.Leu23=) rs146932796
NM_002206.3(ITGA7):c.791-7C>T rs144699549
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235
NM_002206.3(ITGA7):c.882G>A (p.Val294=) rs148190047
NM_002206.3(ITGA7):c.903C>T (p.Ser301=) rs113343213

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