ClinVar Miner

Variants in gene CCDC88C with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
147 15 0 9 14 0 0 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.

uncertain significance likely benign benign
uncertain significance 0 11 3
likely benign 11 0 9
benign 3 9 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_001080414.4(CCDC88C):c.1527+8G>A rs151228192
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn) rs78468999
NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=) rs61746076
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly) rs61743881
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser) rs61745604
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys) rs142539336
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu) rs202217944
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn) rs78570354
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=) rs145210051
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg) rs200543687
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met) rs201931182
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly) rs45560241
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506
NM_001080414.4(CCDC88C):c.809+7C>T rs575390201
NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=) rs61736349

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