ClinVar Miner

Variants with conflicting interpretations studied for Osteogenesis imperfecta type I

Coded as:
Minimum review status of the submission for Osteogenesis imperfecta type I: Collection method of the submission for 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
2027 70 0 10 8 0 3 19

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 type I pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 2 0 0
likely pathogenic 8 0 1 1 0
uncertain significance 2 1 0 8 1
likely benign 0 1 8 0 2
benign 0 0 1 2 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Osteogenesis imperfecta type I 2027 70 0 10 8 0 3 19

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His) rs780422688 0.00003
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000088.4(COL1A1):c.1461+2T>G rs1907417140
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs) rs1260429820
NM_000088.4(COL1A1):c.3424-6C>G rs370865189
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val) rs72667028
NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser) rs72645340
NM_000088.4(COL1A1):c.958-1G>A rs72645352

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