ClinVar Miner

Variants with conflicting interpretations studied for Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C

Coded as:
Minimum review status of the submission for Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C: Y axis collection method of the submission for Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C:
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
184 20 1 20 11 0 1 33

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
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 0 0
uncertain significance 0 1 0 4 1
likely benign 0 0 6 0 1
benign 0 0 0 19 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
Hereditary sensory and autonomic neuropathy type II 0 18 0 19 6 0 0 25
Pseudohypoaldosteronism, type 2 0 18 0 19 6 0 0 25
not provided 0 6 0 2 3 0 1 6
not specified 0 1 0 3 1 0 0 4
Hereditary sensory and autonomic neuropathy type IIA 0 1 1 0 0 0 0 1
Variant of unknown significance 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621
NM_018979.4(WNK1):c.108G>C (p.Gly36=) rs375485682
NM_018979.4(WNK1):c.1512A>G (p.Leu504=) rs56325964
NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr) rs34728563
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala) rs149388376
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala) rs11833299
NM_018979.4(WNK1):c.2052A>G (p.Ala684=) rs72648690
NM_018979.4(WNK1):c.2081T>C (p.Ile694Thr) rs61736905
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) rs147099510
NM_018979.4(WNK1):c.2336C>T (p.Ala779Val) rs141428612
NM_018979.4(WNK1):c.2401A>G (p.Ile801Val) rs139449198
NM_018979.4(WNK1):c.2468A>G (p.His823Arg) rs56015776
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263
NM_018979.4(WNK1):c.2652G>A (p.Ala884=) rs142528714
NM_018979.4(WNK1):c.2664A>G (p.Val888=) rs769020140
NM_018979.4(WNK1):c.3490-5T>A rs72650719
NM_018979.4(WNK1):c.3516A>G (p.Ile1172Met) rs150532648
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala) rs142543401
NM_018979.4(WNK1):c.446C>T (p.Ala149Val) rs34880640
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs567183841
NM_018979.4(WNK1):c.4983T>C (p.Ser1661=) rs149852592
NM_018979.4(WNK1):c.5281-4G>A rs72650740
NM_018979.4(WNK1):c.5481A>G (p.Thr1827=) rs61736908
NM_018979.4(WNK1):c.5496G>A (p.Gln1832=) rs138219481
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln) rs72647372
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=) rs61736907
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser) rs146042595
NM_213655.4(WNK1):c.2152C>T (p.Arg718Cys) rs786205473
NM_213655.4(WNK1):c.3276dup (p.Ser1093fs) rs137852735

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