ClinVar Miner

Variants in gene CCDC88C with conflicting interpretations

See also:
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
1317 86 0 29 29 0 1 58

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 26 4
likely benign 0 0 26 0 28
benign 0 0 4 28 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly) rs45560241 0.00650
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=) rs61736349 0.00446
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys) rs142539336 0.00436
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695 0.00383
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu) rs202217944 0.00330
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001080414.4(CCDC88C):c.891+8G>A rs11851272 0.00323
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506 0.00293
NM_001080414.4(CCDC88C):c.5654G>A (p.Arg1885His) rs61742126 0.00262
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=) rs145210051 0.00218
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg) rs200543687 0.00216
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172 0.00212
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) rs142295786 0.00150
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met) rs201931182 0.00138
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020 0.00136
NM_001080414.4(CCDC88C):c.4327G>A (p.Ala1443Thr) rs189215037 0.00133
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013 0.00125
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly) rs61743881 0.00107
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn) rs78468999 0.00105
NM_001080414.4(CCDC88C):c.1527+8G>A rs151228192 0.00084
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001080414.4(CCDC88C):c.5335C>T (p.Leu1779=) rs374865760 0.00069
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001080414.4(CCDC88C):c.5381C>G (p.Pro1794Arg) rs200077683 0.00055
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001080414.4(CCDC88C):c.3981C>T (p.Leu1327=) rs201259963 0.00048
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn) rs78570354 0.00035
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser) rs61745604 0.00029
NM_001080414.4(CCDC88C):c.702C>T (p.Ala234=) rs188457701 0.00021
NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=) rs61746076 0.00018
NM_001080414.4(CCDC88C):c.5635C>T (p.Arg1879Trp) rs567110504 0.00014
NM_001080414.4(CCDC88C):c.1158G>C (p.Glu386Asp) rs142378431 0.00011
NM_001080414.4(CCDC88C):c.4412G>A (p.Arg1471His) rs201606038 0.00011
NM_001080414.4(CCDC88C):c.5112C>T (p.Ser1704=) rs199730476 0.00011
NM_001080414.4(CCDC88C):c.5331G>C (p.Leu1777=) rs759310053 0.00011
NM_001080414.4(CCDC88C):c.336G>A (p.Leu112=) rs142197686 0.00008
NM_001080414.4(CCDC88C):c.2568C>T (p.Asp856=) rs371010464 0.00006
NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=) rs745338278 0.00004
NM_001080414.4(CCDC88C):c.809+7C>T rs575390201 0.00004
NM_001080414.4(CCDC88C):c.372G>A (p.Leu124=) rs373719057 0.00003
NM_001080414.4(CCDC88C):c.4113-19C>T rs560507685 0.00003
NM_001080414.4(CCDC88C):c.1062A>G (p.Glu354=)
NM_001080414.4(CCDC88C):c.1219C>T (p.Arg407Ter) rs1064796464
NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=) rs61743971
NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)
NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)
NM_001080414.4(CCDC88C):c.2650G>A (p.Gly884Ser)
NM_001080414.4(CCDC88C):c.3555C>T (p.Tyr1185=)
NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)
NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs) rs1396400378
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro) rs1555413299
NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)

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