ClinVar Miner

Variants with conflicting interpretations studied for FLNC-related condition

Minimum review status of the submission for FLNC-related condition: Collection method of the submission for FLNC-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
21 54 0 30 18 0 1 42

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
FLNC-related condition pathogenic uncertain significance likely benign benign
uncertain significance 1 0 2 0
likely benign 0 14 0 22
benign 0 2 8 0

Condition to condition summary #

Total conditions: 4
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 39 0 19 18 0 0 32
not specified 0 18 0 14 0 0 0 14
Cardiovascular phenotype 0 80 0 4 2 0 0 6
Arrhythmogenic cardiomyopathy 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.352+10G>A rs79489893 0.00639
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_001458.5(FLNC):c.2889G>A (p.Pro963=) rs191892345 0.00212
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln) rs199652368 0.00207
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) rs201672146 0.00173
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=) rs10268251 0.00143
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_001458.5(FLNC):c.2180G>A (p.Arg727His) rs200618242 0.00120
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) rs201905890 0.00086
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met) rs201333104 0.00076
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00068
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys) rs202223616 0.00068
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_001458.5(FLNC):c.2390-8C>G rs146063718 0.00057
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu) rs200415625 0.00031
NM_001458.5(FLNC):c.5220C>T (p.His1740=) rs369739871 0.00027
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn) rs370035829 0.00020
NM_001458.5(FLNC):c.1354G>A (p.Val452Met) rs192163925 0.00019
NM_001458.5(FLNC):c.1657G>A (p.Gly553Ser) rs201572079 0.00017
NM_001458.5(FLNC):c.1923C>T (p.His641=) rs375361259 0.00016
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln) rs143720860 0.00016
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083 0.00014
NM_001458.5(FLNC):c.3090C>T (p.Pro1030=) rs760926290 0.00013
NM_001458.5(FLNC):c.5892C>T (p.Asp1964=) rs747546440 0.00011
NM_001458.5(FLNC):c.4952-9G>T rs747821376 0.00010
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val) rs547997371 0.00009
NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val) rs775496136 0.00008
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=) rs377258966 0.00008
NM_001458.5(FLNC):c.2490C>T (p.Thr830=) rs777580254 0.00005
NM_001458.5(FLNC):c.2130C>T (p.Asp710=) rs778781499 0.00003
NM_001458.5(FLNC):c.2392G>A (p.Asp798Asn) rs778594252 0.00003
NM_001458.5(FLNC):c.2930-5C>T rs371599113 0.00003
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg) rs576402053 0.00002
NM_001458.5(FLNC):c.-26_-9dup rs749265933
NM_001458.5(FLNC):c.2199C>G (p.Thr733=) rs200655185
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=) rs369853278

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