ClinVar Miner

Variants with conflicting interpretations studied for FLNA-related condition

Minimum review status of the submission for FLNA-related condition: Collection method of the submission for FLNA-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
86 71 0 24 20 0 0 38

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
FLNA-related condition uncertain significance likely benign benign
uncertain significance 0 1 0
likely benign 18 0 15
benign 1 9 0

Condition to condition summary #

Total conditions: 3
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 69 0 11 16 0 0 24
not specified 0 36 0 18 4 0 0 21
Chronic lung disease 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322 0.00093
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) rs200150148 0.00075
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828 0.00065
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001110556.2(FLNA):c.5313+4C>T rs377330443 0.00028
NM_001110556.2(FLNA):c.1229-8C>T rs376190976 0.00022
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077 0.00018
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372 0.00018
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951 0.00013
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713 0.00009
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936 0.00008
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) rs782615607 0.00007
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=) rs782806731 0.00006
NM_001110556.2(FLNA):c.66C>T (p.Asp22=) rs782358007 0.00006
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586 0.00005
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys) rs743546 0.00004
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) rs200200745 0.00004
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319 0.00003
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771 0.00003
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys) rs782292045
NM_001110556.2(FLNA):c.2826+7A>G rs782545599
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) rs782591917

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