ClinVar Miner

Variants with conflicting interpretations studied for ANK3-related condition

Minimum review status of the submission for ANK3-related condition: Collection method of the submission for ANK3-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
21 31 0 20 8 0 0 27

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
ANK3-related condition uncertain significance likely benign benign
uncertain significance 0 1 0
likely benign 7 0 3
benign 0 17 0

Condition to condition summary #

Total conditions: 2
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 specified 0 4 0 12 6 0 0 18
not provided 0 43 0 13 2 0 0 15

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.4201-3T>C rs2393595 0.12356
NM_020987.5(ANK3):c.6066C>T (p.Ala2022=) rs17208576 0.07406
NM_020987.5(ANK3):c.8655C>A (p.His2885Gln) rs11599164 0.07405
NM_020987.5(ANK3):c.9349A>G (p.Ile3117Val) rs28932171 0.07385
NM_020987.5(ANK3):c.12769A>G (p.Ile4257Val) rs12261793 0.03012
NM_020987.5(ANK3):c.1491+6C>T rs76733192 0.02170
NM_020987.5(ANK3):c.10953A>C (p.Lys3651Asn) rs115903343 0.01085
NM_020987.5(ANK3):c.382A>G (p.Thr128Ala) rs114937210 0.01080
NM_020987.5(ANK3):c.2615-6882A>G rs41283526 0.00832
NM_020987.5(ANK3):c.2544T>C (p.Asp848=) rs60764245 0.00564
NM_020987.5(ANK3):c.6953A>G (p.Lys2318Arg) rs59021407 0.00532
NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln) rs141939315 0.00503
NM_020987.5(ANK3):c.7225T>C (p.Ser2409Pro) rs148904927 0.00459
NM_020987.5(ANK3):c.6955G>A (p.Asp2319Asn) rs140463162 0.00330
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly) rs61845768 0.00329
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_020987.5(ANK3):c.2523T>C (p.Asn841=) rs144773457 0.00222
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser) rs140183285 0.00178
NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly) rs147527383 0.00177
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser) rs41274676 0.00152
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu) rs139022925 0.00126
NM_020987.5(ANK3):c.2200C>T (p.Leu734=) rs144696256 0.00120
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu) rs140741466 0.00073
NM_020987.5(ANK3):c.11366A>G (p.Asn3789Ser) rs144123544 0.00043
NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys) rs188159332 0.00017
NM_020987.5(ANK3):c.12596-355G>T
NM_020987.5(ANK3):c.3105C>G (p.Pro1035=) rs55680239

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