ClinVar Miner

Variants with conflicting interpretations studied for Pseudohypoaldosteronism type 1 autosomal recessive

Coded as:
Minimum review status of the submission for Pseudohypoaldosteronism type 1 autosomal recessive: Y axis collection method of the submission for Pseudohypoaldosteronism type 1 autosomal 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
11 125 0 17 5 0 4 23

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
Pseudohypoaldosteronism type 1 autosomal recessive pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 0 0
likely benign 3 5 0 16
benign 0 0 1 0

Condition to condition summary #

Total conditions: 6
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
not specified 0 18 0 15 1 0 0 16
not provided 0 10 0 5 1 0 0 6
Familial Periodic Fever 0 0 0 1 3 0 0 4
Bronchiectasis with or without elevated sweat chloride 3 0 0 0 0 0 0 2 2
Bronchiectasis with or without elevated sweat chloride 2 0 2 0 0 0 0 1 1
Pseudohypoaldosteronism type 1 autosomal recessive 158 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_001038.6(SCNN1A):c.*1012_*1015TGTT[1] rs796798913
NM_001038.6(SCNN1A):c.-28T>C rs61759919
NM_001038.6(SCNN1A):c.-48A>G rs150809388
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739
NM_001065.3(TNFRSF1A):c.-233C>T rs45537340
NM_001065.3(TNFRSF1A):c.-74G>A rs200084924
NM_001065.3(TNFRSF1A):c.-96C>T rs115164694

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