ClinVar Miner

Variants with conflicting interpretations studied for Familial Candidiasis, Recessive

Coded as:
Minimum review status of the submission for Familial Candidiasis, Recessive: Y axis collection method of the submission for Familial Candidiasis, Recessive:
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
190 18 0 7 13 0 0 20

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
Familial Candidiasis, Recessive likely benign benign
uncertain significance 7 6
likely benign 0 7

Condition to condition summary #

Total conditions: 2
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
Candidiasis, familial, 2 0 4 0 4 6 0 0 10
Immunodeficiency 51 0 7 0 3 7 0 0 10

All variants with conflicting interpretations #

Total variants: 20
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HGVS dbSNP
NM_014339.6(IL17RA):c.1407C>T (p.Cys469=) rs41396346
NM_014339.6(IL17RA):c.152C>T (p.Thr51Met) rs143008696
NM_014339.6(IL17RA):c.1530C>T (p.Asp510=) rs148319877
NM_014339.6(IL17RA):c.1689C>T (p.Gly563=) rs146292661
NM_014339.6(IL17RA):c.2295G>A (p.Gln765=) rs41482444
NM_014339.6(IL17RA):c.2490C>T (p.Pro830=) rs3804060
NM_014339.6(IL17RA):c.551-9G>T rs17205308
NM_014339.6(IL17RA):c.676G>C (p.Glu226Gln) rs144085995
NM_014339.6(IL17RA):c.942G>A (p.Pro314=) rs41321447
NM_014339.6(IL17RA):c.958T>C (p.Trp320Arg) rs140221307
NM_052813.4(CARD9):c.1153G>C (p.Val385Leu) rs3124993
NM_052813.4(CARD9):c.1260G>A (p.Thr420=) rs142757984
NM_052813.4(CARD9):c.12C>T (p.Tyr4=) rs35051231
NM_052813.4(CARD9):c.1383G>A (p.Pro461=) rs138344913
NM_052813.4(CARD9):c.324C>T (p.Asp108=) rs34971035
NM_052813.4(CARD9):c.508G>A (p.Ala170Thr) rs112244317
NM_052813.4(CARD9):c.693G>A (p.Thr231=) rs59902911
NM_052813.4(CARD9):c.808-9C>A rs200458322
NM_052813.4(CARD9):c.809A>T (p.Glu270Val) rs114895119
NM_052813.4(CARD9):c.870G>A (p.Ala290=) rs115057256

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