ClinVar Miner

Variants with conflicting interpretations studied for Multiple fibrofolliculomas

Coded as:
Minimum review status of the submission for Multiple fibrofolliculomas: Y axis collection method of the submission for Multiple fibrofolliculomas:
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 Variants with at least 2 submissions 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 kind of conflict
266 197 5 20 19 0 4 41

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
Multiple fibrofolliculomas pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 5 1 0 0
likely pathogenic 8 0 0 0 0
uncertain significance 3 1 3 13 3
likely benign 1 0 7 0 6
benign 1 0 4 9 0

Condition to condition summary #

Total conditions: 9
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Hereditary cancer-predisposing syndrome 0 109 2 12 14 0 1 27
not provided 0 58 5 9 8 0 3 23
not specified 0 40 1 9 5 0 1 14
Multiple fibrofolliculomas 453 38 2 8 3 0 1 13
Spontaneous pneumothorax 0 64 0 4 2 0 0 5
Pneumothorax, primary spontaneous 0 4 1 1 0 0 0 2
Birt-Hogg-Dub syndrome 0 0 0 0 1 0 0 1
Carcinoma of colon 0 0 0 0 0 0 1 1
Multiple fibrofolliculomas; Pneumothorax, primary spontaneous; Chromosome 17, trisomy 17p11 2; Carcinoma of colon; Renal cell carcinoma, nonpapillary 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_144997.7(FLCN):c.1021C>T (p.Arg341Trp) rs770396757
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1198G>A (p.Val400Ile) rs148257120
NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys) rs143183215
NM_144997.7(FLCN):c.1269C>T (p.His423=) rs41464156
NM_144997.7(FLCN):c.1281C>G (p.Pro427=) rs372207262
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1332C>T (p.Ala444=) rs141283741
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_144997.7(FLCN):c.1414C>G (p.Pro472Ala) rs151312899
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala) rs144883828
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1433-2A>G rs398124528
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val) rs200660337
NM_144997.7(FLCN):c.1464G>A (p.Ala488=) rs747029882
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834
NM_144997.7(FLCN):c.1525_1527GAG[1] (p.Glu510del) rs879255681
NM_144997.7(FLCN):c.1538+14T>G rs112111994
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_144997.7(FLCN):c.205G>A (p.Val69Ile) rs567617762
NM_144997.7(FLCN):c.247G>A (p.Glu83Lys) rs757060348
NM_144997.7(FLCN):c.249+5G>A rs1064793127
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415
NM_144997.7(FLCN):c.33C>T (p.Cys11=) rs754616167
NM_144997.7(FLCN):c.450T>C (p.Phe150=) rs200672897
NM_144997.7(FLCN):c.466_468TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp) rs138070947
NM_144997.7(FLCN):c.586A>G (p.Ile196Val) rs201078144
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612
NM_144997.7(FLCN):c.763C>T (p.His255Tyr) rs879255664
NM_144997.7(FLCN):c.779+1G>T rs758175953
NM_144997.7(FLCN):c.780-1G>T rs878855218
NM_144997.7(FLCN):c.871+47G>A rs142934950
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu) rs138031155

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.