ClinVar Miner

Variants with conflicting interpretations studied for FBN3-related condition

Minimum review status of the submission for FBN3-related condition: Collection method of the submission for FBN3-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
7 109 0 41 6 0 0 47

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
FBN3-related condition uncertain significance likely benign benign
likely benign 6 0 22
benign 0 19 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 0 110 0 41 5 0 0 46
not specified 0 1 0 0 3 0 0 3

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032447.5(FBN3):c.3875A>G (p.Asp1292Gly) rs146679363 0.00653
NM_032447.5(FBN3):c.1466-6C>T rs151062338 0.00549
NM_032447.5(FBN3):c.7846G>A (p.Gly2616Arg) rs142418616 0.00503
NM_032447.5(FBN3):c.3463+3G>A rs192897269 0.00497
NM_032447.5(FBN3):c.448A>T (p.Ile150Phe) rs117724347 0.00483
NM_032447.5(FBN3):c.4738G>A (p.Val1580Ile) rs151274163 0.00451
NM_032447.5(FBN3):c.3426C>T (p.Ala1142=) rs139062839 0.00447
NM_032447.5(FBN3):c.495C>T (p.Asn165=) rs142825892 0.00426
NM_032447.5(FBN3):c.3310C>T (p.Leu1104=) rs112174176 0.00379
NM_032447.5(FBN3):c.6657C>T (p.His2219=) rs114392304 0.00346
NM_032447.5(FBN3):c.1466-8C>T rs201449200 0.00308
NM_032447.5(FBN3):c.1112T>C (p.Met371Thr) rs148024558 0.00307
NM_032447.5(FBN3):c.6604G>A (p.Gly2202Arg) rs138457751 0.00299
NM_032447.5(FBN3):c.5054A>G (p.Asn1685Ser) rs61729609 0.00292
NM_032447.5(FBN3):c.4463G>A (p.Arg1488Gln) rs35442268 0.00260
NM_032447.5(FBN3):c.4020T>C (p.Asn1340=) rs141016150 0.00249
NM_032447.5(FBN3):c.6978T>C (p.Cys2326=) rs112806081 0.00220
NM_032447.5(FBN3):c.8366C>A (p.Pro2789Gln) rs35794930 0.00218
NM_032447.5(FBN3):c.7411C>T (p.Arg2471Cys) rs147683023 0.00202
NM_032447.5(FBN3):c.8183C>T (p.Pro2728Leu) rs143150244 0.00201
NM_032447.5(FBN3):c.4056C>T (p.Gly1352=) rs138217583 0.00198
NM_032447.5(FBN3):c.6444C>T (p.Phe2148=) rs148013574 0.00190
NM_032447.5(FBN3):c.3885C>T (p.Ala1295=) rs139521225 0.00187
NM_032447.5(FBN3):c.3162G>A (p.Glu1054=) rs138827355 0.00180
NM_032447.5(FBN3):c.3171C>T (p.Pro1057=) rs150661557 0.00180
NM_032447.5(FBN3):c.3285G>A (p.Lys1095=) rs139166471 0.00172
NM_032447.5(FBN3):c.4847G>A (p.Cys1616Tyr) rs141592778 0.00154
NM_032447.5(FBN3):c.542-4G>A rs116519546 0.00136
NM_032447.5(FBN3):c.3088G>A (p.Asp1030Asn) rs142237067 0.00094
NM_032447.5(FBN3):c.5223C>T (p.Ile1741=) rs138444808 0.00089
NM_032447.5(FBN3):c.1466-5C>T rs201975904 0.00081
NM_032447.5(FBN3):c.5557C>T (p.Arg1853Trp) rs146543008 0.00072
NM_032447.5(FBN3):c.4334-6C>G rs139666257 0.00058
NM_032447.5(FBN3):c.5352C>T (p.Pro1784=) rs139171406 0.00024
NM_032447.5(FBN3):c.2044+10G>A
NM_032447.5(FBN3):c.2257C>G (p.Pro753Ala)
NM_032447.5(FBN3):c.2946A>C (p.Pro982=)
NM_032447.5(FBN3):c.3082+7G>A
NM_032447.5(FBN3):c.3098G>T (p.Arg1033Leu)
NM_032447.5(FBN3):c.3099C>T (p.Arg1033=)
NM_032447.5(FBN3):c.4488G>A (p.Thr1496=) rs143694434
NM_032447.5(FBN3):c.5012G>A (p.Arg1671Gln)
NM_032447.5(FBN3):c.5434A>G (p.Ile1812Val)
NM_032447.5(FBN3):c.5519C>T (p.Ala1840Val)
NM_032447.5(FBN3):c.6832G>C (p.Asp2278His) rs144887983
NM_032447.5(FBN3):c.7780G>A (p.Val2594Ile) rs35318692
NM_032447.5(FBN3):c.873G>A (p.Arg291=)

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