ClinVar Miner

Variants with conflicting interpretations studied for CC2D2A-related condition

Minimum review status of the submission for CC2D2A-related condition: Collection method of the submission for CC2D2A-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
64 21 0 13 29 0 2 42

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
CC2D2A-related condition pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 1 0 1 0
likely benign 0 0 27 0 3
benign 0 0 1 5 0

Condition to condition summary #

Total conditions: 4
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 provided 0 24 0 9 25 0 1 35
not specified 0 8 0 5 3 0 0 7
CC2D2A-Related Disorders 0 3 0 1 4 0 0 5
Joubert syndrome 9/15, digenic 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=) rs113835820 0.00275
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163 0.00159
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00123
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432 0.00089
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00080
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00073
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391 0.00061
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_001378615.1(CC2D2A):c.4438-31T>C rs147005127 0.00037
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00026
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=) rs768337150 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val) rs137878385 0.00011
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) rs556542553 0.00011
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=) rs756341605 0.00010
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys) rs763477416 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=) rs375278294 0.00007
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=) rs755367503 0.00006
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val) rs768733110 0.00006
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=) rs779304750 0.00004
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=) rs368116362 0.00002
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=) rs377575861 0.00002
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA rs1560177950
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=) rs774919996
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175

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