ClinVar Miner

Variants with conflicting interpretations studied for Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I

Coded as:
Minimum review status of the submission for Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I: Y axis collection method of the submission for Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I:
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
112 30 0 20 10 0 2 30

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
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 4 0 0
likely pathogenic 1 0 0 0
uncertain significance 0 1 0 2
likely benign 0 1 6 0
benign 0 0 2 15

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
Ehlers-Danlos syndrome, procollagen proteinase deficient 0 2 0 6 5 0 0 11
Osteogenesis Imperfecta, Dominant 0 2 0 6 5 0 0 11
not provided 0 16 0 7 3 0 0 10
not specified 0 16 0 8 3 0 0 10
Osteogenesis imperfecta 0 3 0 5 0 0 1 6
Connective tissue disorder 0 5 0 2 3 0 0 5
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III 0 0 0 1 0 0 1 2
Marfan syndrome, atypical 0 0 0 0 1 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 0 0 0 1 0 0 0 1
Predisposition to dissection 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) rs193922159
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) rs139726213
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.226-2A>G rs72656355
NM_000089.3(COL1A2):c.2260G>T (p.Gly754Cys) rs72658177
NM_000089.3(COL1A2):c.2400C>T (p.Pro800=) rs139913150
NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2700C>T (p.Ala900=) rs141688356
NM_000089.3(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831
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.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3585T>C (p.Cys1195=) rs1800253
NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779
NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=) rs34038163
NM_000089.3(COL1A2):c.432+1G>A rs1554395431
NM_000089.3(COL1A2):c.432+4_432+7delAGTA rs72656363
NM_000089.3(COL1A2):c.48C>T (p.Thr16=) rs780687409
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000089.3(COL1A2):c.981C>T (p.Arg327=) rs141762645

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.