ClinVar Miner

Variants with conflicting interpretations studied for Osteogenesis imperfecta

Coded as:
Minimum review status of the submission for Osteogenesis imperfecta: Y axis collection method of the submission for Osteogenesis imperfecta:
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
49 13 1 14 8 0 3 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
Osteogenesis imperfecta pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 5 0 3 0 0
uncertain significance 0 0 1 7 2
likely benign 0 0 1 0 8

Condition to condition summary #

Total conditions: 10
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 5 6 0 0 11
Osteogenesis imperfecta type I 0 7 0 7 2 0 0 9
not provided 0 7 1 5 2 0 1 9
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 0 3 0 5 0 0 1 6
Ehlers-Danlos syndrome, type 7A 0 1 0 0 1 0 0 1
Inborn genetic diseases 0 0 0 0 0 0 1 1
Infantile cortical hyperostosis 0 1 0 0 1 0 0 1
Osteogenesis Imperfecta, Dominant 0 4 0 0 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III 0 0 0 1 0 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.3(COL1A1):c.612C>T (p.Pro204=) rs138078016
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) rs193922159
NM_000089.3(COL1A2):c.1350+11A>T rs193922160
NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) rs139726213
NM_000089.3(COL1A2):c.2700C>T (p.Ala900=) rs141688356
NM_000089.3(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.639+19A>T rs183516726
NM_000089.3(COL1A2):c.81+11del rs193922174
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999

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