ClinVar Miner

Variants with conflicting interpretations studied for COL18A1-related condition

Minimum review status of the submission for COL18A1-related condition: Collection method of the submission for COL18A1-related condition:
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
29 74 0 15 14 0 0 26

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
COL18A1-related condition uncertain significance likely benign benign
uncertain significance 0 2 0
likely benign 12 0 13
benign 0 2 0

Condition to condition summary #

Total conditions: 2
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
not provided 0 76 0 14 12 0 0 24
not specified 0 8 0 2 2 0 0 4

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00202
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) rs200484625 0.00148
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_001379500.1(COL18A1):c.1203T>C (p.Pro401=) rs375400196 0.00126
NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=) rs368594049 0.00117
NM_001379500.1(COL18A1):c.693G>A (p.Val231=) rs149772252 0.00108
NM_001379500.1(COL18A1):c.2478G>A (p.Pro826=) rs369390092 0.00071
NM_001379500.1(COL18A1):c.2890C>T (p.Arg964Trp) rs371106773 0.00071
NM_001379500.1(COL18A1):c.107-12210C>G rs201773944 0.00068
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His) rs202049650 0.00061
NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr) rs201476017 0.00029
NM_001379500.1(COL18A1):c.107-12121C>T rs746406313 0.00021
NM_001379500.1(COL18A1):c.1452G>T (p.Arg484=) rs373106775 0.00021
NM_001379500.1(COL18A1):c.1683A>G (p.Ala561=) rs75222922 0.00016
NM_001379500.1(COL18A1):c.578G>A (p.Arg193Gln) rs2236453 0.00014
NM_001379500.1(COL18A1):c.2032-10G>A rs368213286 0.00004
NM_001379500.1(COL18A1):c.651+6C>G rs755778352 0.00004
NM_001379500.1(COL18A1):c.2684-9C>T rs1002126692 0.00003
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960
NM_001379500.1(COL18A1):c.1675-3C>T
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2958_2966del (p.985GPP[3])
NM_001379500.1(COL18A1):c.3417C>T (p.His1139=)
NM_001379500.1(COL18A1):c.929-4C>A rs370679863

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.