ClinVar Miner

Variants with conflicting interpretations studied for Osteogenesis Imperfecta, Dominant

Coded as:
Minimum review status of the submission for Osteogenesis Imperfecta, Dominant: Y axis collection method of the submission for Osteogenesis Imperfecta, Dominant:
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
0 107 0 23 20 0 1 44

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, Dominant likely pathogenic uncertain significance likely benign benign
uncertain significance 1 0 14 9
likely benign 0 4 0 23

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 14 0 22 12 0 0 34
Osteogenesis imperfecta type I 0 5 0 8 9 0 0 17
not provided 0 9 0 11 1 0 0 12
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 0 1 0 6 5 0 0 11
Connective tissue disorder 0 2 0 0 4 0 0 4
Ehlers-Danlos syndrome, type 7A 0 88 0 0 1 0 0 1
Infantile cortical hyperostosis 0 88 0 0 1 0 0 1
Osteogenesis Imperfecta, Dominant 150 0 0 0 1 0 0 1
Osteogenesis imperfecta 0 4 0 0 1 0 0 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_000088.3(COL1A1):c.*243_*244dupAA rs56302025
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) rs776387246
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1930-14T>C rs2696247
NM_000088.3(COL1A1):c.1983+9G>T rs201091992
NM_000088.3(COL1A1):c.2298T>C (p.Thr766=) rs2734272
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2613+14G>A rs41316685
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.1036-14G>A rs114322680
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
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.3632T>C (p.Ile1211Thr) rs201746779
NM_000089.3(COL1A2):c.3712-13C>T rs74335369
NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=) rs34038163
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.81+8A>C rs765118884
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999

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