ClinVar Miner

Variants with conflicting interpretations studied for Age related macular degeneration 1

Coded as:
Minimum review status of the submission for Age related macular degeneration 1: Collection method of the submission for Age related macular degeneration 1:
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
286 165 0 25 1 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
Age related macular degeneration 1 uncertain significance likely benign benign
uncertain significance 0 1 0
likely benign 1 0 25
benign 0 25 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
Age related macular degeneration 1 286 165 0 25 1 0 0 26

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00466
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00426
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479 0.00347
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349 0.00333
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=) rs151284138 0.00331
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363 0.00282
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00252
NM_031935.3(HMCN1):c.13313-5C>T rs184095385 0.00249
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919 0.00222
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=) rs78613732 0.00210
NM_031935.3(HMCN1):c.4475+9C>A rs111694556 0.00208
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594 0.00173
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872 0.00108
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) rs146867591 0.00070
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026 0.00061
NM_031935.3(HMCN1):c.2212+8T>G rs183165464 0.00054
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) rs565658664 0.00052
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) rs138776748 0.00030
NM_031935.3(HMCN1):c.36G>C (p.Leu12=) rs76631922 0.00029
NM_031935.3(HMCN1):c.861G>A (p.Val287=) rs138455877 0.00024
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=) rs144621380 0.00006
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=) rs373603132 0.00002

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